Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
about
Spectrin-based skeleton as an actor in cell signalingRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceRecessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor developmentALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismEarly onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutationA mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesGRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.Schwann cell spectrins modulate peripheral nerve myelination.Genetic testing in epilepsy: what should you be doing?Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasmsCopy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Isoforms of Spectrin and Ankyrin Reflect the Functional Topography of the Mouse Kidney.A distal axonal cytoskeleton forms an intra-axonal boundary that controls axon initial segment assembly.The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.Subcortical cytoskeleton periodicity throughout the nervous system.Genetic forms of epilepsies and other paroxysmal disordersSomatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.CDKL5 and ARX mutations in males with early-onset epilepsy.Membrane domain organization of myelinated axons requires βII spectrinMutations in γ adducin are associated with inherited cerebral palsy.Genetic and biologic classification of infantile spasms.Subcellular patterning: axonal domains with specialized structure and function.The genetics of the epilepsies.Remodeling of the axon initial segment after focal cortical and white matter stroke.Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Characterization of SPATA5-related encephalopathy in early childhood.Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.Infantile spasms are associated with abnormal copy number variations.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Regulation and dysregulation of axon infrastructure by myelinating glia.αII Spectrin Forms a Periodic Cytoskeleton at the Axon Initial Segment and Is Required for Nervous System Function.
P2860
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P2860
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Dominant-negative mutations in ...... egia, and developmental delay.
@ast
Dominant-negative mutations in ...... egia, and developmental delay.
@en
Dominant-negative mutations in ...... egia, and developmental delay.
@nl
type
label
Dominant-negative mutations in ...... egia, and developmental delay.
@ast
Dominant-negative mutations in ...... egia, and developmental delay.
@en
Dominant-negative mutations in ...... egia, and developmental delay.
@nl
prefLabel
Dominant-negative mutations in ...... egia, and developmental delay.
@ast
Dominant-negative mutations in ...... egia, and developmental delay.
@en
Dominant-negative mutations in ...... egia, and developmental delay.
@nl
P2093
P2860
P50
P1476
Dominant-negative mutations in ...... egia, and developmental delay.
@en
P2093
Akira Nishimura
Hideki Hoshino
Hitoshi Osaka
Ippei Okada
Jun Tohyama
Kazuhiro Haginoya
Kazuhiro Ogata
Keisuke Hamada
Kenji Hayashi
Kiyomi Nishiyama
P2860
P304
P356
10.1016/J.AJHG.2010.04.013
P407
P577
2010-05-20T00:00:00Z