Advancing epilepsy genetics in the genomic era

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

(2015)   ANNALS OF NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

CHD2variants are a risk factor for photosensitivity in epilepsy

(2015) Elizabeth C. Galizia et al.   BRAIN

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

(2015) Anne-Lise Poulat et al.   EPILEPSY RESEARCH

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations

(2015) Barbara Gnidovec Stražišar et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits

(2015) F. Miceli et al.   JOURNAL OF NEUROSCIENCE

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

(2015) R. H. Thomas et al.   NEUROLOGY

mTOR Signaling in Epilepsy: Insights from Malformations of Cortical Development

(2015) P. B. Crino   Cold Spring Harbor Perspectives in Medicine

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

(2015) Dennis Lal et al.   PLoS Genetics

The eEF1A Proteins: At the Crossroads of Oncogenesis, Apoptosis, and Viral Infections

(2015) Wasim Abbas et al.   Frontiers in Oncology

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

(2014) Julien Thevenon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

(2014) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

Targeted treatment of migrating partial seizures of infancy with quinidine

(2014) David Bearden et al.   ANNALS OF NEUROLOGY

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

De novoKCNB1mutations in epileptic encephalopathy

(2014) Ali Torkamani et al.   ANNALS OF NEUROLOGY

DEPDC5mutations in genetic focal epilepsies of childhood

(2014) Dennis Lal et al.   ANNALS OF NEUROLOGY

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

(2014) Nicola Vanni et al.   ANNALS OF NEUROLOGY

Copy number variation plays an important role in clinical epilepsy

(2014) Heather Olson et al.   ANNALS OF NEUROLOGY

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Towards the identification of a genetic basis for Landau-Kleffner syndrome

(2014) Judith Conroy et al.   EPILEPSIA

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation

(2014) Sunita Venkateswaran et al.   EPILEPSIA

The variable phenotypes of KCNQ-related epilepsy

(2014) Nicholas M. Allen et al.   EPILEPSIA

CHD2 mutations in Lennox–Gastaut syndrome

(2014) Caroline Lund et al.   EPILEPSY & BEHAVIOR

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

(2014) Rony Cohen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

(2014) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

Whole exome sequencing in family trios revealsde novomutations inPURAas a cause of severe neurodevelopmental delay and learning disability

(2014) David Hunt et al.   JOURNAL OF MEDICAL GENETICS

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

(2014) Cyril Mignot et al.   JOURNAL OF MEDICAL GENETICS

A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

(2014) Salma Ben-Salem et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Common variants associated with general and MMR vaccine–related febrile seizures

(2014) Bjarke Feenstra et al.   NATURE GENETICS

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

(2014) Caroline Nava et al.   NATURE GENETICS

Genetic testing in the epilepsies—developments and dilemmas

(2014) Annapurna Poduri et al.   Nature Reviews Neurology

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

(2014) F. Picard et al.   NEUROLOGY

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

(2014) Ghada Abdel-Salam et al.   Orphanet Journal of Rare Diseases

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

GRIN2Amutation and early-onset epileptic encephalopathy: personalized therapy with memantine

(2014) Tyler Mark Pierson et al.   Annals of Clinical and Translational Neurology

Discovery of a retigabine derivative that inhibits KCNQ2 potassium channels

(2013) Hai-ning Hu et al.   ACTA PHARMACOLOGICA SINICA

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

(2013) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLC25A22is a novel gene for migrating partial seizures in infancy

(2013) Annapurna Poduri et al.   ANNALS OF NEUROLOGY

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

(2013) Martial Mallaret et al.   BRAIN

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

(2013) Rikke S. Møller et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation

(2013) Zaid Afawi et al.   EPILEPSY RESEARCH

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy

(2013) Atsushi Ishii et al.   GENE

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

Recent advances in the molecular genetics of epilepsy

(2013) Michael S Hildebrand et al.   JOURNAL OF MEDICAL GENETICS

TBC1D24truncating mutation resulting in severe neurodegeneration

(2013) Ayse Guven et al.   JOURNAL OF MEDICAL GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens 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

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy

(2013) Seth P. DeVries et al.   PEDIATRIC NEUROLOGY

Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kv7.2 potassium channel subunits

(2013) Francesco Miceli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

(2013) Scott C. Baraban et al.   Nature Communications

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MEF2Cmutations are a rare cause of Rett or severe Rett-like encephalopathies

(2012) L Lambert et al.   CLINICAL GENETICS

Epi4K: Gene discovery in 4,000 genomes

(2012)   EPILEPSIA

Familial cosegregation of rare genetic variants with disease in complex disorders

(2012) Ingo Helbig et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

(2012) Martin H. Berryer et al.   HUMAN MUTATION

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

(2011) Fadi F. Hamdan et al.   BIOLOGICAL PSYCHIATRY

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy

(2011) Pamela Lachance-Touchette et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

(2010) Antonio Falace et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

(2010) Motoko Otsuka et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

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

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

Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts

(2009) F Molinari et al.   CLINICAL 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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy

(2007) Bin Tang et al.   NEUROBIOLOGY OF DISEASE