Published in J Hum Genet on July 15, 2005
Lafora disease, seizures and sugars. Acta Myol (2007) 1.00
Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy. J Med Genet (2006) 0.90
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics (2009) 0.82
Genetics of Lafora progressive myoclonic epilepsy: current perspectives. Appl Clin Genet (2016) 0.77
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole. Front Neurosci (2014) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet (2013) 4.71
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
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet (2008) 2.98
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
Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia (2014) 1.99
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology (2014) 1.82
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
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol (2006) 1.66
Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet (2004) 1.57
Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia (2010) 1.51
A novel treatment-responsive encephalitis with frequent opsoclonus and teratoma. Ann Neurol (2013) 1.50
HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics (2008) 1.49
Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan. Brain Dev (2003) 1.48
Valacyclovir and prednisolone treatment for Bell's palsy: a multicenter, randomized, placebo-controlled study. Otol Neurotol (2007) 1.48
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr (2006) 1.45
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
A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis (2006) 1.45
Refractory epilepsy accompanying acute encephalitis with multifocal cortical lesions: possible autoimmune etiology. Brain Dev (2007) 1.44
Intracranial EEG findings in patients with lesional lateral temporal lobe epilepsy. Epilepsy Res (2008) 1.44
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res (2003) 1.42
A chronic progressive case of enteroviral limbic encephalitis associated with autoantibody to glutamate receptor epsilon2. Eur Neurol (2007) 1.39
Acute limbic encephalitis: a new entity? Neurosci Lett (2005) 1.35
Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet (2013) 1.32
A patient with epilepsia partialis continua with anti-glutamate receptor epsilon 2 antibodies. Pediatr Neurol (2003) 1.28
Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes. Brain Dev (2011) 1.26
Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord (2009) 1.25
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia (2004) 1.24
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet (2006) 1.20
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord (2006) 1.20
Function and morphology of macula before and after removal of idiopathic epiretinal membrane. Invest Ophthalmol Vis Sci (2003) 1.19
Voltage-gated potassium channel complex antibodies in Creutzfeldt-Jakob disease. J Neurol (2012) 1.17
HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia (2010) 1.16
Elevated C-reactive protein levels in patients with polypoidal choroidal vasculopathy and patients with neovascular age-related macular degeneration. Ophthalmology (2007) 1.15
Lysosomal iron mobilization and induction of the mitochondrial permeability transition in acetaminophen-induced toxicity to mouse hepatocytes. Toxicol Sci (2010) 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
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun (2004) 1.12
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol (2005) 1.12
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment. Hum Mol Genet (2007) 1.11
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet (2013) 1.11
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Adv Neurol (2005) 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
Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res (2010) 1.09
A mild form of adult-onset opsoclonus-myoclonus syndrome associated with antiglutamate receptor antibodies. JAMA Neurol (2013) 1.07
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet (2009) 1.07
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One (2013) 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
"Burst and slow complexes" in nonconvulsive epileptic status. Epileptic Disord (2006) 1.05
Mapping posterior vitreous detachment by optical coherence tomography in eyes with idiopathic macular hole. Am J Ophthalmol (2003) 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
Risk factors for hyperammonemia associated with valproic acid therapy in adult epilepsy patients. Epilepsy Res (2012) 1.03
Clinical spectrum of SCN2A mutations. Brain Dev (2011) 1.03
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene (2013) 1.03
Antibodies to N-methyl-D-aspartate glutamate receptors in Creutzfeldt-Jakob disease patients. J Neuroimmunol (2012) 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
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev (2005) 1.02
Interaction of Golgin-84 with the COG complex mediates the intra-Golgi retrograde transport. Traffic (2010) 1.02
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy. J Child Neurol (2005) 1.01
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. Brain Dev (2009) 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
Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve (2009) 0.99
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
Focal macular electroretinograms before and after removal of choroidal neovascular lesions. Invest Ophthalmol Vis Sci (2002) 0.98
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. Mov Disord (2013) 0.97
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