A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
about
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIDisruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceLGI proteins in the nervous system.Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 geneInternational Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptorsSticky signaling--adhesion class G protein-coupled receptors take the stageThe claw paw mutation reveals a role for Lgi4 in peripheral nerve developmentWhirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associationsUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Genetics and epilepsy.Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionChaperoning G protein-coupled receptors: from cell biology to therapeuticsEvaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlasesHigh-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsIdentification and characterization of alternative exon usage linked glioblastoma multiforme survivalA new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous familyAnticonvulsant activity, teratogenicity and pharmacokinetics of novel valproyltaurinamide derivatives in miceA large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.Genetic mechanisms that underlie epilepsy.Expression studies in gliomas and glial cells do not support a tumor suppressor role for LGI1.Current understanding of usher syndrome type II.Genetics of idiopathic epilepsies.The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic backgroundEpilepsy-aphasia syndromes.The spectrum of anticonvulsant efficacy of retigabine (ezogabine) in animal models: implications for clinical use.The very large G protein coupled receptor (Vlgr1) in hair cells.The molecular biology of genetic-based epilepsies.Development of individualized medicine for epilepsy based on genetic information.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphologyGenomic regulatory blocks encompass multiple neighboring genes and maintain conserved synteny in vertebrates.Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.ADGRV1 is implicated in myoclonic epilepsy.Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy
P2860
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P2860
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
description
2002 nî lūn-bûn
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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@ast
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en-gb
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@nl
type
label
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@ast
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en-gb
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@nl
prefLabel
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@ast
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en-gb
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@nl
P2093
P2860
P356
P1433
P1476
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
@en
P2093
Akira Matsui
Anna M Clark
Junko Nakayama
Kenzo Hamano
Louis J Ptácek
Nobuaki Iwasaki
Satoko Nakahara
Tadao Arinami
Ying-Hui Fu
P2860
P356
10.1002/ANA.10347
P407
P577
2002-11-01T00:00:00Z