Childhood Epilepsy research team. 2024

Publications for parents

Practical aspects of childhood epilepsy – BMJ

Read about the practical aspects of childhood epilepsy published in the British Medical Journal.

What every parent should know about Rolandic Epilepsy

Rolandic epilepsy is the most common type of epilepsy – affecting about one-sixth of all children with epilepsy in the UK – that means over 10,000 people! So you are definitely not alone. Download publication  

It’s so good to hear your voice

My sister Ali suffers from a form of pediatric epilepsy that affects the language centre of the brain. She was born normal, but around age three had a series of 12 ear infections in three months. After that, Ali begun to lose her language and soon after became completely mute… Download publication (PDF) 

Understanding Panayiotopoulos Syndrome

Epilepsy is not a single disease but rather a large group of disorders whose common feature is the tendency to have recurrent epileptic seizures. Download publication (PDF) 

Epilepsy Genetics Service at King’s College Hospital

This leaflet offers information on our bi-monthly clinics that we run for children and families affected by Complex Epilepsies to try and identify the genetic cause behind each condition. Download publication (PDF) 

Epilepsy & Genetics Information for Parents

Genetics is the study of genes and inheritance. It studies how parents pass on to their children different characteristics or traits. Every person inherits half of their genes from the mother and the other half from the father. Download publication (PDF) 

Valproate Patient Guide

This booklet is for you if you are a girl or a woman taking any medicine containing valproate. It contains key information about the risks of valproate in pregnancy. Download publication (PDF) 

Publications for professionals

This review highlights rare genetic diseases caused by mTOR pathway hyperactivation, summarising their genetics, symptoms, and treatments. It also showcases UK efforts to unite researchers, clinicians, and patients to improve diagnosis and care.
This study identifies genetic variants—particularly involving the gene SLCO5A1—that are linked to impulsivity in juvenile myoclonic epilepsy, highlighting synaptic regulation as a key biological mechanism.
This paper shows that treatment response varies according to patient subgroups, with women faring worst of all. The study also sheds light on the problem of stress-triggered seizures.
In this paper we measure trait impulsivity in JME using two self-report questionnaires (BIS-brief and BIS-11). We see that trait impulsivity is elevated in JME compared to matched controls and comparable to scores in those with personality and neurotic disorders. Elevated impulsivity in JME is associated with having more frequent seizures (particularly absence seizures) as well as experiencing a psychiatric adverse event on levetiracetam
We have mapped the items from epilepsy-specific questionnaires for children to our recently developed core outcome set for children
We have found and appraised the measurement properties of existing epilepsy-specific questionnaires of children’s health-related quality of life.
We have identified 38 outcomes across 10 domains that young people with epilepsy, parents of children with epilepsy and professionals think should be measured in childhood epilepsy research.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, with seizures at night and neurodevelopmental impairments such as dyslexia. In this study of 186 children with RE from ethnically diverse populations, we identified rare copy number variation (CNV, large duplications or deletions of DNA) in 84. Download publication (PDF) 

Incorporating epilepsy genetics into clinical practice: a 360° evaluation

We evaluated a new epilepsy genetic diagnostic and counseling service covering a UK population of 3.5 million. We calculated diagnostic yield, estimated clinical impact, and surveyed referring clinicians and families. We costed alternative investigational pathways for neonatal onset epilepsy. Download publication (PDF) 

The Effects of Sleep on Emotional Target Detection Performance: A Novel iPad-Based Pediatric Game (Mar 2018)

Consolidation of learning occurs during sleep but when it is disturbed there may be an adverse impact upon these functions. While research has focused upon how sleep affects cognition in adulthood, the effects of disrupted sleep are likely to impact more heavily on learning among children and adolescents. Download publication (PDF) 

Core Health Outcomes In Childhood Epilepsy (CHOICE): protocol for the selection of a core outcome set (Mar 2018)

There is increasing recognition that establishing a core set of outcomes to be evaluated and reported in trials of interventions for particular conditions will improve the usefulness of health research. Download publication (PDF) 

Defining the phenotypic spectrum of SLC6A1 mutations (Mar 2018)

Objective: Pathogenic SLC6A1 variants were recently described in patients  with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. Download publication (PDF) 

Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes (Nov 2017)

Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolan- dic epilepsy) is a common epilepsy syndrome that is associated with literacy and lan- guage impairments. Download publication (PDF) 

A specific deficit of auditory processing in children with Rolandic Epilepsy and their relatives (Nov 2017)

Previous research shows that children with Rolandic Epilepsy have deficits of auditory processing. We wanted to confirm the nature of this deficit and whether it aggregates in families. Download publication (PDF) 

Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy? (Nov 2017)

We thank McGlade et al. for their interest in our recent publication,1 where we identify an association between a PAX6 30 UTR variant rs662702 – whose T allele disrupts the seed region of microRNA-3282,3 – and EEG centrotemporal spikes (CTS) in Rolandic Epilepsy (RE). Download publication (PDF) 

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU (Nov 2017)

Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Download publication (PDF) 

Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue (Nov 2017)

Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, cognitive and language disorders. Using bioinformatic and patient data we shortlisted 10 diverse missense mutations for characterisation. Download publication (PDF) 

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs (Nov 2017)

Retrospective study of 19 patients (7 females; age: 1–38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification. Download publication (PDF) 

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Nov 2016)

Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Download publication (PDF) 

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients (Nov 2016)

Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. Download publication (PDF) 

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies (Nov 2016)

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. Download publication (PDF) 

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (Nov 2016)

We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations. Download publication (PDF) 

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation (Nov 2016)

Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridization, with WTCCC controls (n =4,783). Download publication (PDF) 

Idiopathic focal epilepsies: the “lost tribe” (Nov 2016)

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. Download publication (PDF) 

Analysis of rare copy number variation in absence epilepsies (Nov 2016)

We identified CNVs that are known risk factors for AE in 4 patients, including 3x 15q11.2 deletion. We also expanded the phenotype at 4 regions more commonly identified in other neurodevelopmental disorders. Download publication (PDF) 

A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy (Nov 2016)

Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. Download publication (PDF) 

New SMARCA2 Mutation in a Patient With Nicolaides–Baraitser Syndrome and Myoclonic Astatic Epilepsy (Nov 2016)

We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides–Baraitser syndrome. Download publication (PDF) 

Dissecting the genetic basis of myoclonic-astatic epilepsy (Mar 2014)

Herman Doose first described the generalized childhood epilepsy syndrome of myoclonic astatic epilepsy (MAE) in 1970, attributing a genetic cause from this first description. Download publication (PDF) 

Conference Posters

Core Health Outcomes In Childhood Epilepsy (CHOICE study): Selection of a Core Outcome Set (COS) (Aug 2018)

The results of an online Delphi survey in which young people with epilepsy, their parents and professionals took part. Participants were asked to rate the importance of various outcome domains and how important they are to be included in rolandic epilepsy research. Some of the outcomes that were of importance included ‘Sleep, Mental Health and Family functioning’. Download publication (PDF) 

Longitudinal MRI reveals decreased cortical thinning in Rolandic epilepsy in seizure remission: a pilot study (Aug 2018)

This study has shown evidence of decreased cortical thinning in children with RE in seizure remission. The distribution of changes in cortical thickness are similar to controls. However, the rate of thinning appears to be slower in RE, in particular over the left caudal mid frontal, inferior temporal and parietal regions. Download publication (PDF) 

Developmental Coordination Disorder (DCD), general coordination and fine motor deficits are prevalent in children with Rolandic epilepsy (Mar 2018)

Goals Use the DCDQ’07 to calculate the prevalence of DCD cases in children with RE, their siblings and controls. Identify the key features in motor deficits from subscores in groups. See if motor deficits exist in non-cases. Download publication (PDF) 

Developmental coordination disorder in children with Rolandic epilepsy and their siblings (Mar 2018)

Goals Using the DCDQ’07 to detect DCD symptoms in children with RE, their siblings and controls Identify the key problems in motor abilities and subscores. Download publication (PDF) 

Incorporating epilepsy genetics into clinical practice: utility and cost saving (Mar 2018)

We established a regional epilepsy genetics service: southeast England serving a population of 3.5 million.The service has two components: a specialist outpatient clinic a molecular diagnostic service. We evaluated: the effectiveness and utility of NGS investigation costs the patient/referrer experience. Download publication (PDF) 

High prevalence of intellectual disability, autism, ADHD and diminished adaptive functioning in Doose syndrome (MAE) (Mar 2018)

Introduction and Purpose High prevalence of intellectual disability, autism, ADHD and diminished adaptive functioning in Doose syndrome (MAE). Download publication (PDF) 

Cognitive and behavioural impulsivity in patients with Juvenile Myoclonic Epilepsy (Mar 2018)

When patients with juvenile myoclonic epilepsy (JME) present at clinic, the presence of impulsive behaviour and/or poor inhibitory control is often reported yet research findings are variable. Download publication (PDF) 

International Epilepsy Congress 2017 in Barcelona Posters (Nov 2017)

Here you can access the research posters presented by our team at the International Epilepsy Congress 2017 in Barcelona. Download publication (PDF) 

Archive

2018
  • Morris C, Dunkley C, Gibbon F, Currier J, Roberts D, Rogers M, Crudgington H, Bray L, Carter B, Hughes D, Tudur CS, Williamson P, Gringras P, & Pal DK. Core Health Outcomes In Childhood Epilepsy (CHOICE): Protocol for the selection of a core outcome set. Trials. 2018 January; 18(1):572. DOI: 10.1186/s13063-017-2323-7.
  • Johannesen K, Gardella E, Linnankivi T, Courage C, Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Lawrence MJ, Rodan LH, Tan WH, Bird L, Nespeca M, Gleeson J, Yoo Y, Møller R, Pal DK, Tang S. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 January; 59(2):389-402. DOI: 10.1111/epi.13986.
  • Colonna A, Smith AB, Smith S, VanDenEshof K, Orgill J, Gringras P and Pal DK. The Effects of Sleep on Emotional Target Detection Performance: A Novel iPad-Based Pediatric Game. Front. Psychol. March 2018. 9:241. DOI: 10.3389/fpsyg.2018.00241
2017
  • von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. European Journal of Paediatric Neurology. 2017 May;21(3):530-541. DOI: 10.1016/j.ejpn.2017.01.001.
  • Addis L, Virdee JK, Vidler LR, Collier DA, Pal DK, Ursu D. Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue. Scientific Reports. 2017 Feb 27;7(1):66. DOI: 10.1038/s41598-017-00115-w.
  • Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. 2017 Apr;136(4):463-479. DOI: 10.1007/s00439-017-1772-0.
  • Strug LJ, Pal DK. Reply to: Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy? Annals of Clinical and Translational Neurology. 2017 Mar 23;4(4):278-280. DOI: 10.1002/acn3.403.
  • Smith AB, Dawes P, Smith S, Pal DK. A specific deficit of auditory processing in children with Rolandic Epilepsy and their relatives. Epilepsy Behaviour. 2017 Jul;72:135-139. DOI: 10.1016/j.yebeh.2017.04.043.
2016
  • Tee AR, Sampson JR, Pal DK & Bateman JM (2016). The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex. Seminars in cell & developmental biology ; (Vol. 52, pp. 12-20). Academic Press. DOI: 10.1016/j.semcdb.2016.01.040
  • Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of medical genetics, jmedgenet-2015. DOI: 10.1136/jmedgenet-2015-103451
  • Panjwani N, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Gomez K, Gupta R, Hughes E, Jackman J Kinali M, McCormick D, Oren C, Scott D, Taylor J, Stanek J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Novotny EJ, Wolf ST, Arnold P, Schachar R, Pal DK, Strug LJ (2016). A microRNA‐328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy. Annals of Clinical and Translational Neurology. DOI: 10.1002/acn3.320
  • Rosch RE, Farquhar M, Gringras P, & Pal DK (2016). Narcolepsy following yellow fever vaccination: A case report. Frontiers in Neurology; 7. DOI: 10.3389/fneur.2016.00130
  • Møller RS, Larsen LHG, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda M, Farooq M, Nielsen JEK, Lavard L, Linnet K, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Born PA, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Lana Al-Zehhawi, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA (2016). Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular Syndromology; 7(4), 210-219. DOI: 10.1159/000448369
  • Tang S, Hughes E, Lascelles K, Simpson MA, & Pal DK. (2016). New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy. American Journal of Medical Genetics Part A. DOI: 10.1002/ajmg.a.37935.
  • de Kovel CG, Brilstra EH, van Kempen MJ, Van’t Slot R, Nijman IJ, Afawi Z, De Jonghe P, Djémié T, Guerrini R, Hardies K, Helbig I, Hendrickx R, Kanaan M, Kramer U, Lehesjoki AE, Lemke JR, Marini C, Mei D, Møller RS, Pendziwiat M, Stamberger H, Suls A, Weckhuysen S; EuroEPINOMICS RES Consortium, Koeleman BP (2016). Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Molecular Genetics & Genomic Medicine 4(5), 568-580. DOI: 10.1002/mgg3.235.
  • Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M (2016). Idiopathic focal epilepsies: the “lost tribe”. Epileptic Disorders; 18(3), 252-288. DOI: 10.1684/epd.2016.0839.
  • de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M1, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J, EuroEPINOMICS-RES MAE working group, van ‘t Slot R, Van Maldergem L, Brilstra EH, Koeleman BP (2016). De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. Journal of Medical Genetics pii: jmedgenet-2016-103909. DOI: 10.1136/jmedgenet-2016-103909.
  • Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie C. M, Pinto D, & Parr JR (2015). Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Human mutation; 36(9), 842-850.
  • Addis L, Rosch RE, Valentin A, Makoff A, Robinson R, Everett KV, Pal DK (2016). Analysis of rare copy number variation in absence epilepsies. Neurology Genetics, 2(2), e56.
  • Smith AB, Dawes P, Pal DK (2016). Defining auditory processing deficits in children with Rolandic Epilepsy and their relatives. Epilepsia; in review.
  • Colonna A, Smith AB, Smith S, Gringras P, Pal DK (2016). Consolidation of facial emotion processing during sleep in typically developing children: a crossover trial. PLoS One; in review.
  • C. v. Stülpnagel, M. Ensslen, R. S Møller, DK Pal, S. Masnada, P. Veggiotti, E. Piazza, M. Dreesmann, T. Hartlieb, E. Hughes, M. Koch, Christina Kutzer, K. Hoertnagel, J. Nitanda, M. Pohl, K. Rostásy, K. Stöhr, G. Kluger, I. Borggraefe (2016). GRIN2A associated epilepsy: genetics, neurodevelopment, epileptic phenotype and the response to anticonvulsive drugs. European Journal of Paediatric Neurology; in review.
2015
  • Mellish LC, Dunkley C, Ferrie CD, & Pal DK (2015). Antiepileptic drug treatment of rolandic epilepsy and Panayiotopoulos syndrome: clinical practice survey and clinical trial feasibility. Archives of disease in childhood, 100(1), 62-67. DOI: 10.1136/archdischild-2013-304211
  • Pal DK & Helbig I. (2015). Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry. Epilepsia; 56(2):195-6. DOI: 10.1111/epi.12906
  • Li W, Dobbins S, Tomlinson I, Houlston R, Pal DK, & Strug LJ. (2015). Prioritizing Rare Variants with Conditional Likelihood Ratios. Human heredity; 79(1), 5-13. DOI:10.1159/000371579
  • Larsen J, Carvill GL, Gardella E, EuroEPINOMICS RES Consortium (2015). The phenotypic spectrum of SCN8A encephalopathy. Neurology; 84(5), 480-489. DOI: 10.1212/WNL.0000000000001211
  • Syrbe S, Hedrich UB, Riesch E, EuroEPINOMICS RES (2015). De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics; 47(4), 393-399. DOI: 10.1038/ng.3239
  • Addis L, Joo A, Dobson R, Dixit A, Ogilvie C, Pinto D, Vaags A, Coon H, Chaste P, Ingason A, Wilson S, Parr J, Anfrieux J, Delobel B, Tumer A, Isidor B, Luuzzi V, Aubell K, Koilinen H, Curran S, Spector T, Marshall C, Scherer S, Strug L, Collier DA, Pal DK. (2015). Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Human mutation 36(9), 842-850. DOI: 10.1002/humu.22816
  • Smith AB, Bajomo O, & Pal DK (2015). A meta‐analysis of literacy and language in children with rolandic epilepsy. Developmental Medicine & Child Neurology 57(11), 1019-1026. DOI:10.1111/dmcn.12856
  • Colonna, A., Smith, A. B., Pal, D. K., & Gringras, P. (2015). Novel mechanisms, treatments, and outcome measures in childhood sleep. Frontiers in psychology; 6. DOI: 10.3389/fpsyg.2015.00602
  • Larsen J, Johannesen K, Ek J, Tang S, Marini C, Blichfeldt S, Kibæk M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F, MAE working group of the EuroEPINOMICS RES Consortium, Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Gurrini R, Dunø M, Hjalgrim H,14, Pal DK, Helbig I, Møller RS. (2015). The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia; 56(12), e203-e208. DOI: 10.1111/epi.13222
  • Yaiza Hernández Vega, Anna Smith, Hannah Cockerill, Shan Tang, Zaloa Agirre-Arrizubieta, Sushma Goyal, Marisa Pina, Cigdem I Akman, Nicola Jolleff, Colm McGinnity, Kumudini Gomez, Rajesh Gupta, Elaine Hughes, John Jackman, David McCormick, Caroline Oren, David Scott, Jacqueline Taylor, John Trounce, Tara Clarke, Huntley Hardison, Steven Kugler, David Mandelbaum, Edward Novotny, Patricia McGoldrick, Steven Wolf, Theodore Chiang, Lisa J Strug, Deb K Pal (2015). Risk factors for reading disability in families with rolandic epilepsy. Epilepsy & Behavior; 53, 174-179. DOI: 10.1016/j.yebeh.2015.10.016
  • Addis L, Rosch RE, Valentin A, Makoff A, Robinson R, Everett KV, Nashef L & Pal DK. (2016). Analysis of rare copy number variation in absence epilepsies. Neurology Genetics; 2(2), e56. DOI: 10.1212/NXG.0000000000000056
  • Lim L, Chantiluke K, Cubillo AI, Smith AB, Simmons A, Mehta MA, & Rubia K (2015). Disorder-specific grey matter deficits in attention deficit hyperactivity disorder relative to autism spectrum disorder. Psychological medicine; 45(05), 965-976. DOI: 10.1017/S0033291714001974
2014
  • Addis L, Chiang T, Clarke T, Hardison H, Kugler S, Mandelbaum D, Novotny E, Wolf S, Strug LJ, Pal DK. (2014). Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci. Genes, Brain and Behavior; 13(3), 333-340. DOI: 10.1111/gbb.12110
  • Euro Epinomics-RES Consortium, Epilepsy Phenome/Genome P, Epi KC. (2014). De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. The American Journal of Human Genetics; 95(4), 360-370. DOI: 10.1016/j.ajhg.2014.08.013
  • Lemke JR, Hendrickx R, Geider K, Laube, B, Schwake M, Harvey RJ, & Neidhardt J (2014). GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Annals of neurology; 75(1), 147-154. DOI: 10.1002/ana.24073
  • Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, & Raffo, E. (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature genetics; 46(6), 640-645. DOI: 10.1038/ng.2952
  • Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, & Thiele H (2014). Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nature genetics; 46(12), 1327-1332. DOI: 10.1038/ng.3130
  • Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, & Von Spiczak S (2013). De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. The American Journal of Human Genetics; 93(5), 967-975. DOI: 10.1016/j.ajhg.2013.09.017
  • O’Harney AD, Marquand A, Rubia K, Chantiluke K, Smith AB, Cubillo A, & Filippone M (2014). Pseudo-Marginal Bayesian Multiple-Class Multiple-Kernel Learning for Neuroimaging Data. In ICPR (pp. 3185-3190).
  • Derkach A, Chiang T, Gong J, Addis L, Dobbins S, Tomlinson I, & Strug LJ (2014). Association analysis using next generation sequence data from publicly available control groups: The robust variance score statistic. Bioinformatics; btu196. DOI: 10.1093/bioinformatics/btu196
  • Pal DK, & Strug LJ (2014). The genetics of common epilepsies: common or distinct?. The Lancet Neurology; 13(9), 859-860. DOI: 10.1016/S1474-4422(14)70124-3
  • Rubia K, Cubillo AI, Chantiluke K, & Smith AB (2014). S. 06.02 Effects of psychotropic drugs in the ADHD brain. European Neuropsychopharmacology; 24, S117. DOI: 10.1016/S0924-977X(14)70139-7
  • Hart H, Chantiluke K, Cubillo AI, Smith AB, Simmons A, Brammer MJ, Marquand AF & Rubia K (2014). Pattern classification of response inhibition in ADHD: Toward the development of neurobiological markers for ADHD. Human brain mapping; 35(7), 3083-3094. DOI: 10.1002/hbm.22386
  • Murphy CM, Christakou A, Daly EM, Ecker C, Giampietro V, Brammer M, Smith A & Rubia K. (2014). Abnormal functional activation and maturation of fronto-striato-temporal and cerebellar regions during sustained attention in autism spectrum disorder. American Journal of Psychiatry;171(10), 1107-1116. DOI: 10.1176/appi.ajp.2014.12030352
  • Hart H, Marquand AF, Smith A, Cubillo A, Simmons A, Brammer M, & Rubia K (2014). Predictive neurofunctional markers of attention-deficit/hyperactivity disorder based on pattern classification of temporal processing. Journal of the American Academy of Child & Adolescent Psychiatry; 53(5), 569-578. DOI: 10.1016/j.jaac.2013.12.024
  • Rubia K, Alegria AA, Cubillo AI, Smith AB, Brammer MJ, & Radua J (2014). Effects of stimulants on brain function in attention-deficit/hyperactivity disorder: a systematic review and meta-analysis. Biological psychiatry 76(8), 616-628. DOI: 10.1016/j.biopsych.2013.10.016
  • Cubillo A, Smith AB, Barrett N, Giampietro V, Brammer MJ, Simmons A, & Rubia K (2014). Shared and drug-specific effects of atomoxetine and methylphenidate on inhibitory brain dysfunction in medication-naive ADHD boys. Cerebral Cortex; 24(1), 174-185. DOI: 10.1093/cercor/bhs296
2012
  • Smith AB, Kavros PM, Clarke T, Dorta NJ, Tremont G, & Pal DK (2012). A neurocognitive endophenotype associated with rolandic epilepsy. Epilepsia; 53(4), 705-711. DOI: 10.1111/j.1528-1167.2011.03371.x
  • Tang S and Pal DK, (2012). Dissecting the genetic basis of myoclonic‐astatic epilepsy. Epilepsia;53(8), pp.1303-1313. DOI: 10.1111/j.1528-1167.2012.03581.x
  • Strug LJ, Addis L, Chiang T, Baskurt Z, Li W, Clarke T, Wolf SM, Greenberg DA, Hardison HH, Kugler SL, Mandelbaum DE, Novotny EJ, Pal DK (2012). The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in rolandic epilepsy. PloS one;7(7), e40696. DOI: 10.1371/journal.pone.0040696
  • Cubillo A, Halari R, Smith A, Taylor E, & Rubia K (2012). A review of fronto-striatal and fronto-cortical brain abnormalities in children and adults with Attention Deficit Hyperactivity Disorder (ADHD) and new evidence for dysfunction in adults with ADHD during motivation and attention. Cortex; 48(2), 194-215. DOI: 10.1016/j.cortex.2011.04.007
  • Heng HS, Tang SS, Goyal S, Wraige EA, & Lim MJ (2012). Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy. Developmental Medicine & Child Neurology;54(2), 183-186. DOI: 10.1111/j.1469-8749.2011.04131.x
  • Tang SS, Fernandez D, Lazarou LP, Singh R, & Fallon P (2012). MECP2 triplication in 3 brothers–A rarely described cause of familial neurological regression in boys. European Journal of Paediatric Neurology; 16(2), 209-212. DOI: 10.1016/j.ejpn.2011.07.011
2011
  • Tang SS, Clarke T, Owens J, & Pal DK (2011). Sleep Behavior Disturbances in Rolandic Epilepsy. Journal of Child Neurology; 26(2), 239 – 243. DOI: 10.1177/0883073810381925
  • Pal DK. (2011). Commentary on: Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies. Epilepsia; 52(1), 1-9. DOI: 10.1111/j.1528-1167.2010.02734.x
  • Pal, DK (2011). Epilepsy and neurodevelopmental disorders of language. Current opinion in neurology; 24(2), 126-131. DOI: 10.1097/WCO.0b013e328344634a
  • Pong AW, Pal DK, & Chung WK (2011). Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatric neurology; 44(5), 317-327. DOI: 10.1016/j.pediatrneurol.2011.01.017
  • Smith A, Giampietro V, Brammer M, Halari R, Simmons A, & Rubia K (2011). Functional development of fronto-striato-parietal networks associated with time perception. Frontiers in human neuroscience; 5, 136. DOI: 10.3389/fnhum.2011.00136
  • Rubia K, Cubillo A, Woolley J, Brammer MJ, & Smith A (2011). Disorder‐specific dysfunctions in patients with attention‐deficit/hyperactivity disorder compared to patients with obsessive‐compulsive disorder during interference inhibition and attention allocation. Human brain mapping;32(4), 601-611. DOI: 10.1002/hbm.21048
  • Cubillo A, Smith AB, Barrett N, Giampietro V, Simmons A, & Rubia K (2011). S. 07.06 Differential effects of methylphenidate and atomoxetine on brain activation in medication-naïve children with ADHD. European Neuropsychopharmacology; 21, S197. DOI: 10.1016/S0924-977X(11)70267-X
  • Rubia K, Halari R, Cubillo A, Smith AB, Mohammad AM, Brammer M, & Taylor E (2011). Methylphenidate normalizes fronto-striatal underactivation during interference inhibition in medication-naive boys with attention-deficit hyperactivity disorder. Neuropsychopharmacology;36(8), 1575-1586. DOI: 10.1038/npp.2011.30
  • Smith AB, Halari R, Giampetro V, Brammer M, & Rubia K (2011). Developmental effects of reward on sustained attention networks. Neuroimage; 56(3), 1693-1704. DOI: 10.1016/j.neuroimage.2011.01.072
  • Surana P, Tang S, McDougall M, Tong CYW, Menson E, & Lim M (2011). Neurological complications of pandemic influenza A H1N1 2009 infection: European case series and review. European journal of pediatrics; 170(8), 1007-1015. DOI: 10.1007/s00431-010-1392-3
  • Tang S, Lin JP, Hughes E, Lim M, & Lascelles K (2011). P01. 5 Encephalopathic course with neurological deterioration and neuroimaging abnormalities in children with SCN1A mutation associated epilepsy. European Journal of Paediatric Neurology; 15, S33.
  • Tang S, Lin JP, Hughes E, Siddiqui A, Lim M, & Lascelles K (2011). Encephalopathy and SCN1A mutations. Epilepsia; 52(4), e26-e30. DOI: 10.1111/j.1528-1167.2011.03019.x
  • Tang SS, Siddiqui A, Andronikou S, McDougall M, Martinez-Alier N, & Lundy CT (2011). Acute encephalopathy in childhood associated with novel influenza a h1n1 virus infection: clinical and neuroimaging findings. The Ulster medical journal; 80(1), 49.
2010
  • Strug LJ, Hodge SE, Chiang T, Pal DK, Corey P, and Rohde C. (2010). A pure likelihood approach to the analysis of genetic association data: an alternative to Bayesian and Frequentist analysis, European Journal of Human Genetics; 18(8):933-41. DOI: 10.1038/ejhg.2010.47
  • Pal DK, Strug LJ, Veliskova, J, Chachua T, Velisek L & Greenberg DA (2010). Major susceptibility genes for common idiopathic epilepsies: ELP4 in rolandic epilepsy and BRD2 in juvenile myoclonic epilepsy. Epilepsia; 51(5):73.
  • Pal DK, Pong AW, Chung WK. (2010). Genetic evaluation and genetic counseling in the epilepsies, Nature Reviews Neurology; 6(8):445-53. DOI: 10.1038/nrneurol.2010.92
  • Vierck E, Cauley R, Kugler SL, Shah N, Mandelbaum DE, Pal DK, Durner M. (2010). Polyspike and wave does not predict GTCS in childhood absence epilepsy, Journal of Child Neurology; 25(4):475-81.
  • Ferraro TN, Dlugos DJ, Hakonarson H, & Buono RJ (2010). Strategies for studying the epilepsy genome. Epilepsia; 51(5):58.
  • Pal D K, Li W, Clarke T, Lieberman P, & Strug LJ (2010). Pleiotropic effects of the 11p13 locus on developmental verbal dyspraxia and EEG centrotemporal sharp waves. Genes, Brain and Behavior; 9(8), 1004-1012. DOI: 10.1111/j.1601-183X.2010.00648.x
  • Campbell LE, Azuma R, Ambery F, Stevens A, Smith A, Morris RG, & Murphy KC (2010). Executive functions and memory abilities in children with 22q11. 2 deletion syndrome. Australian and New Zealand Journal of Psychiatry; 44(4), 364-371. DOI: 10.3109/00048670903489882
  • Rubia K, Hyde Z, Halari R, Giampietro V, & Smith A (2010). Effects of age and sex on developmental neural networks of visual–spatial attention allocation. Neuroimage; 51(2), 817-827. DOI: 10.1016/j.neuroimage.2010.02.058

Mission Statement:

We are a clinical and laboratory research group dedicated to understanding the nature and cause of childhood epilepsies in order to develop new interventions that reduce the impact of the condition.

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Sex-specific Disease Modifiers in Juvenile Myoclonic Epilepsy
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