Published in Epilepsy Res on May 01, 2003
Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest (2005) 3.17
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet (2005) 1.90
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 1.65
Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc Natl Acad Sci U S A (2012) 1.65
Fibroblast growth factor homologous factors: evolution, structure, and function. Cytokine Growth Factor Rev (2005) 1.61
Functional properties and differential neuromodulation of Na(v)1.6 channels. Mol Cell Neurosci (2008) 1.47
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet (2013) 1.32
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol (2005) 1.12
Three ENU-induced neurological mutations in the pore loop of sodium channel Scn8a (Na(v)1.6) and a genetically linked retinal mutation, rd13. Mamm Genome (2004) 0.94
Untangling the dravet syndrome seizure network: the changing face of a rare genetic epilepsy. Epilepsy Curr (2014) 0.81
A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding. Hum Genet (2014) 0.80
Generation of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique. Sci Rep (2014) 0.78
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation. Transl Psychiatry (2016) 0.78
Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome. EBioMedicine (2016) 0.76
Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. Am J Med Genet A (2008) 0.76
SCN1A in SMEI, ICEGTC, and GEFS+: Alphabet Soup or Emerging Genotypic-Phenotypic Clarity? Epilepsy Curr (2003) 0.76
A plethora of SCN1A mutations: what can they tell us? Epilepsy Curr (2005) 0.75
Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine. Eur Biophys J (2017) 0.75
Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci (2007) 4.34
Piezo proteins are pore-forming subunits of mechanically activated channels. Nature (2012) 3.54
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain (2003) 2.44
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci (2004) 2.31
Translocation of botulinum neurotoxin light chain protease through the heavy chain channel. Nat Struct Biol (2003) 2.19
Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia (2014) 1.99
Three-dimensional structure of the channel-forming trans-membrane domain of virus protein "u" (Vpu) from HIV-1. J Mol Biol (2003) 1.99
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet (2002) 1.73
Autoantibodies and cell-mediated autoimmunity to NMDA-type GluRepsilon2 in patients with Rasmussen's encephalitis and chronic progressive epilepsia partialis continua. Epilepsia (2005) 1.65
Single molecule detection of intermediates during botulinum neurotoxin translocation across membranes. Proc Natl Acad Sci U S A (2007) 1.59
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet (2004) 1.57
Expression, purification, and activities of full-length and truncated versions of the integral membrane protein Vpu from HIV-1. Protein Sci (2002) 1.54
Valacyclovir and prednisolone treatment for Bell's palsy: a multicenter, randomized, placebo-controlled study. Otol Neurotol (2007) 1.48
A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis (2006) 1.45
Intracranial EEG findings in patients with lesional lateral temporal lobe epilepsy. Epilepsy Res (2008) 1.44
Crucial role of the disulfide bridge between botulinum neurotoxin light and heavy chains in protease translocation across membranes. J Biol Chem (2007) 1.39
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet (2013) 1.32
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6). Hum Mol Genet (2002) 1.29
Botulinum neurotoxin heavy chain belt as an intramolecular chaperone for the light chain. PLoS Pathog (2007) 1.28
Bimodal modulation of the botulinum neurotoxin protein-conducting channel. Proc Natl Acad Sci U S A (2009) 1.26
Kv3.4 subunits enhance the repolarizing efficiency of Kv3.1 channels in fast-spiking neurons. Nat Neurosci (2003) 1.25
Botulinum neurotoxin devoid of receptor binding domain translocates active protease. PLoS Pathog (2008) 1.23
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet (2006) 1.20
Probing conformational changes of gramicidin ion channels by single-molecule patch-clamp fluorescence microscopy. Biophys J (2003) 1.13
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol (2005) 1.12
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun (2004) 1.12
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum Mol Genet (2007) 1.11
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet (2009) 1.07
Molecular template for a voltage sensor in a novel K+ channel. III. Functional reconstitution of a sensorless pore module from a prokaryotic Kv channel. J Gen Physiol (2008) 1.06
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet (2002) 1.05
DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death. J Neurosci (2009) 1.04
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat (2007) 1.03
Risk factors for hyperammonemia associated with valproic acid therapy in adult epilepsy patients. Epilepsy Res (2012) 1.03
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02
Consensus on diagnosis and management of JME: From founder's observations to current trends. Epilepsy Behav (2013) 1.01
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia (2012) 1.01
Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease. J Biol Chem (2009) 1.00
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia (2006) 0.99
Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex (2009) 0.99
Molecular architecture of botulinum neurotoxin E revealed by single particle electron microscopy. J Biol Chem (2007) 0.98
Molecular template for a voltage sensor in a novel K+ channel. I. Identification and functional characterization of KvLm, a voltage-gated K+ channel from Listeria monocytogenes. J Gen Physiol (2006) 0.97
Molecular dynamics investigation of membrane-bound bundles of the channel-forming transmembrane domain of viral protein U from the human immunodeficiency virus HIV-1. Biophys J (2002) 0.97
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS One (2013) 0.96
Isoflurane modulation of neuronal nicotinic acetylcholine receptors expressed in human embryonic kidney cells. Anesthesiology (2005) 0.95
HLA class I markers in Japanese patients with carbamazepine-induced cutaneous adverse reactions. Epilepsia (2009) 0.95
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. Hum Mol Genet (2011) 0.94
Functional characterization and NMR spectroscopy on full-length Vpu from HIV-1 prepared by total chemical synthesis. J Am Chem Soc (2004) 0.94
Rapid amygdala gamma oscillations in response to fearful facial expressions. Neuropsychologia (2010) 0.93
Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol (2004) 0.93
Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood. Brain Dev (2013) 0.92
Alternative splicing modulates subcellular localization of laforin. Biochem Biophys Res Commun (2002) 0.91
Single-channel analyses of ethanol modulation of neuronal nicotinic acetylcholine receptors. Alcohol Clin Exp Res (2004) 0.91
Crystal structure of a voltage-gated K+ channel pore module in a closed state in lipid membranes. J Biol Chem (2012) 0.91
Genetics of epilepsy: current status and perspectives. Neurosci Res (2002) 0.91
Risk factors for hyperammonemia in pediatric patients with epilepsy. Epilepsia (2013) 0.91
The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Hum Mol Genet (2003) 0.91
Chemical synthesis and single channel properties of tetrameric and pentameric TASPs (template-assembled synthetic proteins) derived from the transmembrane domain of HIV virus protein u (Vpu). J Biol Chem (2004) 0.90
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res (2007) 0.90
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet (2002) 0.90
Role of primary sensorimotor cortex and supplementary motor area in volitional swallowing: a movement-related cortical potential study. Am J Physiol Gastrointest Liver Physiol (2003) 0.90
Fipronil modulation of GABAA receptor single-channel currents. Pest Manag Sci (2004) 0.89
Involvement of medial temporal structures in reflexive attentional shift by gaze. Soc Cogn Affect Neurosci (2007) 0.89
Mortality in Dravet syndrome: search for risk factors in Japanese patients. Epilepsia (2011) 0.88
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. J Hum Genet (2005) 0.88
Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun (2007) 0.87
Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia (2011) 0.87
Ictal very low frequency oscillation in human epilepsy patients. Ann Neurol (2010) 0.87
Tetrameric assembly of KvLm K+ channels with defined numbers of voltage sensors. Proc Natl Acad Sci U S A (2012) 0.87
Modulation of epileptiform EEG discharges in juvenile myoclonic epilepsy: an investigation of reflex epileptic traits. Epilepsia (2012) 0.87
Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat (2010) 0.87
Clinical significance of ictal high frequency oscillations in medial temporal lobe epilepsy. Clin Neurophysiol (2011) 0.86
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev (2005) 0.86
Rapid amygdala gamma oscillations in response to eye gaze. PLoS One (2011) 0.86
Bumetanide-induced enlargement of the intercellular space in the stria vascularis critically depends on Na+ transport. Hear Res (2003) 0.86
Postictal mania versus postictal psychosis: differences in clinical features, epileptogenic zone, and brain functional changes during postictal period. Epilepsia (2006) 0.86
A substantial number of Rasmussen syndrome patients have increased IgG, CD4+ T cells, TNFalpha, and Granzyme B in CSF. Epilepsia (2009) 0.86
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. Epilepsia (2010) 0.85
Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals. Biol Open (2012) 0.85
Genetic abnormalities underlying familial epilepsy syndromes. Brain Dev (2002) 0.85
Influence of CYP2C19 polymorphism and concomitant antiepileptic drugs on serum clobazam and N-desmethyl clobazam concentrations in patients with epilepsy. Ther Drug Monit (2013) 0.84