Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
about
Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceThe Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialGenetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersStructure-function of proteins interacting with the α1 pore-forming subunit of high-voltage-activated calcium channelsEmerging evidence for specific neuronal functions of auxiliary calcium channel α₂δ subunits.Differences in human cortical gene expression match the temporal properties of large-scale functional networks.Genetic basis of pediatric epilepsy syndromes.Regulation of high-voltage-activated Ca(2+) channel function, trafficking, and membrane stability by auxiliary subunits.Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilityAccurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.Voltage-gated calcium channels and their auxiliary subunits: physiology and pathophysiology and pharmacologyLessons learned from gene identification studies in Mendelian epilepsy disorders.Injury-induced maladaptation and dysregulation of calcium channel α2 δ subunit proteins and its contribution to neuropathic pain development.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Altered expression of the voltage-gated calcium channel subunit α₂δ-1: a comparison between two experimental models of epilepsy and a sensory nerve ligation model of neuropathic pain.Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous Variants
P2860
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P2860
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
Early infantile epileptic ence ...... e gated calcium channelopathy.
@en
Early infantile epileptic ence ...... e gated calcium channelopathy.
@nl
type
label
Early infantile epileptic ence ...... e gated calcium channelopathy.
@en
Early infantile epileptic ence ...... e gated calcium channelopathy.
@nl
prefLabel
Early infantile epileptic ence ...... e gated calcium channelopathy.
@en
Early infantile epileptic ence ...... e gated calcium channelopathy.
@nl
P2093
P1476
Early infantile epileptic ence ...... e gated calcium channelopathy.
@en
P2093
Avraham Shaag
Fida Aziz Abulhijaa
Flora Barghouthi Taher
Orly Elpeleg
Shamir Zenvirt
Shimrit Oz
Simon Edvardson
P304
P356
10.1136/JMEDGENET-2012-101223
P407
P577
2013-02-01T00:00:00Z