Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia (2014) 2.15

Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia (2010) 1.59

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry. Epilepsia (2014) 1.46

Genetic testing in epilepsy: what should you be doing? Epilepsy Curr (2011) 1.39

Epi4K: gene discovery in 4,000 genomes. Epilepsia (2012) 1.21

Genetic testing in the epilepsies-developments and dilemmas. Nat Rev Neurol (2014) 1.10

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet (2013) 1.00

What's at stake? Genetic information from the perspective of people with epilepsy and their family members. Soc Sci Med (2011) 1.00

Accuracy of family history information on epilepsy and other seizure disorders. Neurology (2011) 0.99

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models. Neurotherapeutics (2014) 0.90

Genetic regulation of human brain development: lessons from Mendelian diseases. Ann N Y Acad Sci (2010) 0.86

Genetics of Epilepsy in Clinical Practice. Epilepsy Curr (2015) 0.85

Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol (2014) 0.84

Atypical face shape and genomic structural variants in epilepsy. Brain (2012) 0.84

From genetics to genomics of epilepsy. Neurol Res Int (2012) 0.81

Presence of epilepsy-associated variants in large exome databases. J Neurogenet (2013) 0.81

Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests. J Nerv Ment Dis (2014) 0.81

Ethics and neuropsychiatric genetics: a review of major issues. Int J Neuropsychopharmacol (2012) 0.80

Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. PLoS One (2013) 0.80

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia (2013) 0.79

A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis. Genes Brain Behav (2014) 0.79

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PLoS One (2015) 0.79

Genetic causal attribution of epilepsy and its implications for felt stigma. Epilepsia (2015) 0.76

Epileptic syndromes: From clinic to genetic. Iran J Neurol (2015) 0.75

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations. J Hum Genet (2016) 0.75

The International League Against Epilepsy at the threshold of its second century: year 1. Epilepsia (2011) 0.75

Diagnostic approach of epilepsy in childhood and adolescence. Maedica (Buchar) (2013) 0.75

Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read. Epilepsy Curr (2014) 0.75

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. Mol Syndromol (2015) 0.75

[Obstetrical, infectious and traumatic factors associated with epilepsy in the rural area of Bangoua (West, Cameroon)]. Pan Afr Med J (2014) 0.75

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies. Biomed Res Int (2016) 0.75

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients. Mol Diagn Ther (2017) 0.75

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Ethical, legal, and social dimensions of epilepsy genetics. Epilepsia (2006) 5.95

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet (2001) 5.61

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet (2000) 5.05

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet (1998) 4.91

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet (1998) 4.89

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet (1998) 4.25

A potassium channel mutation in neonatal human epilepsy. Science (1998) 4.17

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet (2001) 3.83

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet (2002) 3.73

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet (2001) 3.39

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet (2005) 3.32

ASHG Statement* on direct-to-consumer genetic testing in the United States. Obstet Gynecol (2007) 3.19

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (1995) 3.15

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet (2001) 3.15

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86

Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol (2003) 2.79

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet (2002) 2.72

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65

Geneticization of deviant behavior and consequences for stigma: the case of mental illness. J Health Soc Behav (2005) 2.54

Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43

SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.32

The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet (2000) 2.21

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain (2004) 2.04

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.01

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol (2007) 2.00

Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94

The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia (2008) 1.91

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain (1999) 1.84

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet (2008) 1.83

A catalog of SCN1A variants. Brain Dev (2008) 1.81

Masking epilepsy by combining two epilepsy genes. Nat Neurosci (2007) 1.79

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol (2002) 1.77

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet (2000) 1.73

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain (2006) 1.72

LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology (2004) 1.67

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet (2004) 1.65

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol (2000) 1.64

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology (2003) 1.61

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest (2008) 1.60

Analysis of genetically complex epilepsies. Epilepsia (2005) 1.58

Malformations of cortical development and epilepsy. Dialogues Clin Neurosci (2008) 1.53

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol (2005) 1.53

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol (2003) 1.51

Genetic association studies in epilepsy: "the truth is out there". Epilepsia (2004) 1.51

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. Ann Neurol (2002) 1.48

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. Hum Mutat (2006) 1.46

ARX: a gene for all seasons. Curr Opin Genet Dev (2006) 1.46

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology (2003) 1.45

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology (2001) 1.43

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain (2008) 1.41

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev (2009) 1.41

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol (2004) 1.40

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia (2007) 1.40

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet (2009) 1.37

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet (2007) 1.36

Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet (2001) 1.34

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet (2006) 1.33

Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J Neurosci (2005) 1.33

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology (2003) 1.30

CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet (2003) 1.25

A polygenic heterogeneity model for common epilepsies with complex genetics. Genes Brain Behav (2007) 1.25

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia (2009) 1.23

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol (2002) 1.23

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology (2002) 1.21

Benign familial neonatal convulsions: always benign? Epilepsy Res (2006) 1.19

Susceptibility genes for complex epilepsy. Hum Mol Genet (2005) 1.17

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat (2009) 1.16

The genetic analysis of human behavior: a new era? Soc Sci Med (1992) 1.16

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet (2000) 1.15

Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol (2004) 1.14

A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia (2006) 1.06

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet (2004) 1.05

Human epilepsies: interaction of genetic and acquired factors. Trends Neurosci (2006) 1.04

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun (2006) 1.02

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol (2007) 1.01

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. J Neurol (2004) 1.01

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia (2006) 0.99

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology (2006) 0.99

Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia (2007) 0.99

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia (2006) 0.98

A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy. Epilepsia (2007) 0.98

Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology (2008) 0.97

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. Ann Neurol (2005) 0.97

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis (2005) 0.94

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia (2008) 0.94

A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol (2000) 0.93

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat (2006) 0.93

Epilepsy pharmacogenetics. Pharmacogenomics (2009) 0.91

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology (2006) 0.91

Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology (2004) 0.91

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia (2010) 18.28

De novo mutations in epileptic encephalopathies. Nature (2013) 7.42

ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12

Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease. Neuron (2007) 6.60

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 5.11

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45

Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32

Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nat Neurosci (2005) 4.18

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol (2012) 4.12

New concepts in classification of the epilepsies: entering the 21st century. Epilepsia (2011) 3.99

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet (2013) 3.64

Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13

Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol (2013) 3.06

BK channel beta4 subunit reduces dentate gyrus excitability and protects against temporal lobe seizures. Nat Neurosci (2005) 3.05

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98

Amyloid-β/Fyn-induced synaptic, network, and cognitive impairments depend on tau levels in multiple mouse models of Alzheimer's disease. J Neurosci (2011) 2.96

Sensorineural deafness and seizures in mice lacking vesicular glutamate transporter 3. Neuron (2008) 2.96

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86

Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70

Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia (2012) 2.45

Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43

Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol (2008) 2.39

SCN1A mutations and epilepsy. Hum Mutat (2005) 2.34

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34

SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet (2006) 2.34

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet (2001) 2.32

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology (2014) 2.30

The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain (2007) 2.30

SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol (2013) 2.28

Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? AJNR Am J Neuroradiol (2002) 2.26

EEG features in idiopathic generalized epilepsy: clues to diagnosis. Epilepsia (2006) 2.23

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol (2010) 2.23

Antiepileptic drug therapy: does mechanism of action matter? Epilepsy Behav (2011) 2.20

Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J Neurosci (2003) 2.18

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet (2009) 2.12

The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12

Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol (2007) 2.00

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95

The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate. Mol Pharmacol (2005) 1.95

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94

Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci (2004) 1.92

Models for epilepsy and epileptogenesis: report from the NIH workshop, Bethesda, Maryland. Epilepsia (2002) 1.91

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91

Suppression of PKR promotes network excitability and enhanced cognition by interferon-γ-mediated disinhibition. Cell (2011) 1.89

Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88

GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet (2005) 1.84

Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology (2014) 1.82

Neuronal LRP1 functionally associates with postsynaptic proteins and is required for normal motor function in mice. Mol Cell Biol (2004) 1.81

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol (2012) 1.80

Masking epilepsy by combining two epilepsy genes. Nat Neurosci (2007) 1.79

Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells. J Cell Sci (2004) 1.79

The genetics of Dravet syndrome. Epilepsia (2011) 1.77

Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol (2006) 1.73

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology (2013) 1.72

Is benign rolandic epilepsy genetically determined? Ann Neurol (2004) 1.68

Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J Neurosci (2002) 1.66

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet (2004) 1.65

Visualization of transmitter release with zinc fluorescence detection at the mouse hippocampal mossy fibre synapse. J Physiol (2005) 1.63

A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet (2006) 1.63

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. Arch Neurol (2011) 1.61

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology (2013) 1.61

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain (2010) 1.61

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest (2008) 1.60

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. Epilepsy Res (2009) 1.59

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev (2002) 1.56

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol (2006) 1.55

Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy. J Neurosci (2013) 1.54

Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology (2014) 1.52

To share or not to share: a randomized trial of consent for data sharing in genome research. Genet Med (2011) 1.52

Arc regulates spine morphology and maintains network stability in vivo. Proc Natl Acad Sci U S A (2010) 1.51

Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci (2010) 1.51

Channelopathies in idiopathic epilepsy. Neurotherapeutics (2007) 1.49

Muscle excitability abnormalities in Machado-Joseph disease. Arch Neurol (2008) 1.48

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology (2012) 1.48

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci (2009) 1.48

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet (2012) 1.48

Nervous system KV7 disorders: breakdown of a subthreshold brake. J Physiol (2008) 1.47

Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol (2007) 1.46

Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol (2007) 1.46

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet (2012) 1.45

Identification of new epilepsy treatments: issues in preclinical methodology. Epilepsia (2012) 1.45

Voxel-based morphometry in patients with idiopathic generalized epilepsies. Neuroimage (2006) 1.44

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet (2010) 1.44

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol (2013) 1.44

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol (2003) 1.42