Published in Epilepsia on January 01, 2003
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Direct metagenomic detection of viral pathogens in nasal and fecal specimens using an unbiased high-throughput sequencing approach. PLoS One (2009) 2.67
Hepatic steatosis in leptin-deficient mice is promoted by the PPARgamma target gene Fsp27. Cell Metab (2008) 2.57
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
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Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet (2013) 1.79
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
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet (2008) 1.64
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet (2004) 1.57
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
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res (2003) 1.42
Stroke epidemiology, prevention, and management strategies at a regional level: Latin America and the Caribbean. Lancet Neurol (2007) 1.42
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet (2012) 1.41
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet (2013) 1.32
Neurocysticercosis. Epilepsy Curr (2005) 1.31
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol (2007) 1.29
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics (2006) 1.24
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet (2006) 1.20
Assessment of the nutrition status of patients with Huntington's disease. Nutrition (2004) 1.20
Genome-wide DNA methylation patterns in naive CD4+ T cells from patients with primary Sjögren's syndrome. Arthritis Rheumatol (2014) 1.20
Function and morphology of macula before and after removal of idiopathic epiretinal membrane. Invest Ophthalmol Vis Sci (2003) 1.19
Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits. Hum Mol Genet (2009) 1.15
Elevated C-reactive protein levels in patients with polypoidal choroidal vasculopathy and patients with neovascular age-related macular degeneration. Ophthalmology (2007) 1.15
An invasion-independent pathway of blood-borne metastasis: a new murine mammary tumor model. Am J Pathol (2002) 1.14
The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system. Hum Mol Genet (2008) 1.14
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics (2007) 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
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (2013) 1.11
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum Mol Genet (2007) 1.11
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet (2013) 1.10
Polyangitis overlap syndrome: a fatal case combined with adult Henoch-Schönlein purpura and polyarteritis nodosa. Pathol Int (2003) 1.10
Epithelioid fibrosarcoma of the ovary. Virchows Arch (2004) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet (2009) 1.07
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
Mapping posterior vitreous detachment by optical coherence tomography in eyes with idiopathic macular hole. Am J Ophthalmol (2003) 1.04
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum (2010) 1.04
DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death. J Neurosci (2009) 1.04
Inflammatory system gene polymorphism and the risk of stroke: a case-control study in an Indian population. Brain Res Bull (2007) 1.04
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Hum Mutat (2007) 1.03
Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up. Brain (2006) 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
Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol (2004) 1.01
Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum (2012) 1.01
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
Seizures of idiopathic generalized epilepsies. Epilepsia (2005) 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
Absence of Multiple Sclerosis and Demyelinating Diseases among Lacandonians, a Pure Amerindian Ethnic Group in Mexico. Mult Scler Int (2012) 0.99
Focal macular electroretinograms before and after removal of choroidal neovascular lesions. Invest Ophthalmol Vis Sci (2002) 0.98
Comparative study of diagnostic value of cytologic sampling by endoscopic ultrasonography-guided fine-needle aspiration and that by endoscopic retrograde pancreatography for the management of pancreatic mass without biliary stricture. J Gastroenterol Hepatol (2005) 0.96
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS One (2013) 0.96
Association between inflammatory gene polymorphisms and coronary artery disease in an Indian population. J Thromb Thrombolysis (2007) 0.96
Discourse analysis: what is it and why is it relevant to family practice? Fam Pract (2009) 0.95
The SCN1A gene variants and epileptic encephalopathies. J Hum Genet (2013) 0.95
Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease. Hum Mol Genet (2011) 0.94
Morphological evidence for an invasion-independent metastasis pathway exists in multiple human cancers. BMC Med (2004) 0.94
Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis. J Hum Genet (2006) 0.94
Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol (2004) 0.93