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Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42

Principles for the buffering of genetic variation. Science (2001) 6.38

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

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96

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

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet (2001) 3.92

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65

Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science (2006) 3.52

International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Pharmacol Rev (2005) 3.50

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39

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

Voltage-gated calcium channels. Cold Spring Harb Perspect Biol (2011) 3.36

The epigenetics of cancer etiology. Semin Cancer Biol (2004) 3.24

Neural KCNQ (Kv7) channels. Br J Pharmacol (2009) 3.20

Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest (2005) 3.17

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

Overview of the voltage-gated sodium channel family. Genome Biol (2003) 3.10

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

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell (2011) 2.93

Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet (1995) 2.72

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

Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet (1995) 2.65

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58

A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk. Cell (2008) 2.55

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet (1998) 2.51

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet (2011) 2.48

International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. Pharmacol Rev (2005) 2.39

A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II. Neuron (1998) 2.33

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci (2004) 2.31

Histone modifications at gene promoter regions in rat hippocampus after acute and chronic electroconvulsive seizures. J Neurosci (2004) 2.30

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol (2014) 2.25

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

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet (2011) 2.10

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology (1998) 2.10

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

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet (2012) 2.08

The descriptive epidemiology of epilepsy-a review. Epilepsy Res (2009) 2.05

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

Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet (2013) 1.91

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

Epilepsy in poor regions of the world. Lancet (2012) 1.85

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

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet (1988) 1.82

Molecular targets for antiepileptic drug development. Neurotherapeutics (2007) 1.78

HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism. Cell Rep (2014) 1.78

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet (2012) 1.72

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

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet (2008) 1.69

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

Altered histone acetylation at glutamate receptor 2 and brain-derived neurotrophic factor genes is an early event triggered by status epilepticus. J Neurosci (2002) 1.67

Epigenetic regulation of gene expression in physiological and pathological brain processes. Physiol Rev (2011) 1.66

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet (2008) 1.64

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci U S A (2010) 1.64

Structure and function of voltage-gated sodium channels. J Physiol (1998) 1.62

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol (2014) 1.62

Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet (2015) 1.56

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cytogenet Genome Res (2011) 1.54

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet (2012) 1.51

Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors. J Neurosci (2013) 1.48

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet (2010) 1.48

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

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett (2008) 1.40

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. Am J Med Genet (1991) 1.36

MicroRNA expression profile of the hippocampus in a rat model of temporal lobe epilepsy and miR-34a-targeted neuroprotection against hippocampal neurone cell apoptosis post-status epilepticus. BMC Neurosci (2012) 1.35

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology (2004) 1.33

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet (1999) 1.30

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

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology (2010) 1.29

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

Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24. Epilepsia (2002) 1.21

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology (1999) 1.16

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

Differential DNA methylation patterns define status epilepticus and epileptic tolerance. J Neurosci (2012) 1.12

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Am J Hum Genet (2011) 1.11

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res (2005) 1.10

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology (2008) 1.10

EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci (2009) 1.09

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Hum Mol Genet (2014) 1.08

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet (2014) 1.08

Increased reelin promoter methylation is associated with granule cell dispersion in human temporal lobe epilepsy. J Neuropathol Exp Neurol (2009) 1.07

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia (2013) 1.07

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum Mol Genet (2011) 1.07

Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Am J Med Genet B Neuropsychiatr Genet (2007) 1.06

Epilepsy and microRNA. Neuroscience (2013) 1.06

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

CALHM1 P86L polymorphism is associated with late-onset Alzheimer's disease in a recessive model. J Alzheimers Dis (2010) 1.03

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet (2014) 1.03

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes. Hum Mutat (2009) 1.02

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. Proc Natl Acad Sci U S A (2014) 1.01

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am J Hum Genet (1998) 0.99

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology (2001) 0.99

Dysregulation of miR-34a links neuronal development to genetic risk factors for bipolar disorder. Mol Psychiatry (2015) 0.99

Epilepsy as a neurodevelopmental disorder. Front Psychiatry (2012) 0.98

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Mol Neurobiol (2011) 0.98