A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes includingGRIN2AandPRRT2

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

(2013) Cynthia J. Curry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

(2013) Manal Salmi et al.   BRAIN

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

(2013) Dennis Lal et al.   PLoS One

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

(2012) Danya F. Vears et al.   EPILEPSIA

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

(2012) Yi-Chung Lee et al.   PLoS One

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

(2011) Nadia Boutry-Kryza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

(2011) Capucine Hyon et al.   European Journal of Medical Genetics

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Benign infantile seizures and paroxysmal dyskinesia: A well-defined familial syndrome

(2011) Alberto Espeche et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Genomic copy number variations at 17p13.3 and epileptogenesis

(2010) Keiko Shimojima et al.   EPILEPSY RESEARCH

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

(2010) Patrice Roll et al.   PLoS One

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

(2009) Andreas Hahn et al.   BRAIN & DEVELOPMENT

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: Insights into possible genetic factors

(2009) Gabrielle Rudolf et al.   EPILEPSIA

Atypical rolandic epilepsy

(2009) Natalio Fejerman   EPILEPSIA

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

(2009) Lisa J Strug et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

(2009) L Roos et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS