Genetic variation of CACNA1H in idiopathic generalized epilepsy
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Linkage and association analysis of CACNG3 in childhood absence epilepsyWhy is intelligence correlated with semen quality?: Biochemical pathways common to sperm and neuron function and their vulnerability to pleiotropic mutationsMolecular targets for antiepileptic drug developmentGenetic neurological channelopathies: molecular genetics and clinical phenotypes.The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsA Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaThe neurobiology of antiepileptic drugsRole of voltage-gated calcium channels in epilepsy.Neurological channelopathies.Genetic testing in the epilepsies--report of the ILAE Genetics CommissionFamilial clustering of seizure types within the idiopathic generalized epilepsies.Retrieval of context-associated memory is dependent on the Ca(v)3.2 T-type calcium channel.Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationRecurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.Physiology and pathology of calcium signaling in the brain.Sacred disease secrets revealed: the genetics of human epilepsy.Susceptibility genes for complex epilepsy.Epilepsy: a review of selected clinical syndromes and advances in basic science.Dendritic ion channelopathy in acquired epilepsyMolecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.Voltage-gated calcium channels and idiopathic generalized epilepsies.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismChannelopathies in idiopathic epilepsy.A polygenic heterogeneity model for common epilepsies with complex genetics.Inhibitory peptidergic modulation of C. elegans serotonin neurons is gated by T-type calcium channels.Axon initial segment dysfunction in epilepsy.The molecular biology of genetic-based epilepsies.Calcium signaling and epilepsy.The role of T-type calcium channel genes in absence seizures.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Genetic variants in absence epilepsy: a contextual consideration of calcium current kineticsMechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.Gain-of-function HCN2 variants in genetic epilepsy.An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal.Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels.
P2860
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P2860
Genetic variation of CACNA1H in idiopathic generalized epilepsy
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@ast
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@en
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@nl
type
label
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@ast
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@en
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@nl
prefLabel
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@ast
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@en
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@nl
P2093
P50
P356
P1433
P1476
Genetic variation of CACNA1H in idiopathic generalized epilepsy
@en
P2093
Aziz Mazarib
Hilary A Phillips
John C Mulley
Miriam Y Neufeld
P356
10.1002/ANA.20028
P407
P577
2004-04-01T00:00:00Z