Published in Epilepsia on March 26, 2007
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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet (2007) 0.97
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De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. BMC Med Genet (2014) 0.84
Novel mRNA isoforms of the sodium channels Na(v)1.2, Na(v)1.3 and Na(v)1.7 encode predicted two-domain, truncated proteins. Neuroscience (2008) 0.82
Genetic variations and associated pathophysiology in the management of epilepsy. Appl Clin Genet (2011) 0.82
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Factors influencing clinical features of absence seizures. Epilepsia (2008) 4.32
Improved culturability of soil bacteria and isolation in pure culture of novel members of the divisions Acidobacteria, Actinobacteria, Proteobacteria, and Verrucomicrobia. Appl Environ Microbiol (2002) 4.22
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Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet (2012) 2.98
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol (2006) 2.93
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. J Hum Genet (2004) 2.89
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
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet (2008) 2.58
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet (2002) 2.43
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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
Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol (2010) 2.23
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
Temporal lobectomy: long-term seizure outcome, late recurrence and risks for seizure recurrence. Brain (2004) 2.08
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet (2012) 2.07
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
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet (2008) 1.95
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
Paroxysmal motor disorders of sleep: the clinical spectrum and differentiation from epilepsy. Epilepsia (2006) 1.94
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol (2009) 1.94
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91
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
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci U S A (2007) 1.82
Seizure-associated hippocampal volume loss: a longitudinal magnetic resonance study of temporal lobe epilepsy. Ann Neurol (2002) 1.82
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol (2012) 1.80
The genetics of Dravet syndrome. Epilepsia (2011) 1.77
Tramadol and new-onset seizures. Med J Aust (2005) 1.77
Mechanisms of human inherited epilepsies. Prog Neurobiol (2008) 1.75
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
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain (2006) 1.72