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Article

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

American journal of human genetics - 5 Nov 2015

Coutelier Marie, Blesneac Iulia, Monteil Arnaud, Monin Marie-Lorraine, Ando Kunie, Mundwiller Emeline, Brusco Alfredo, Le Ber Isabelle, Anheim Mathieu, Castrioto Anna, Duyckaerts Charles, Brice Alexis, Durr Alexandra, Lory Philippe, Stevanin Giovanni

Abstract excerpt

Hereditary cerebellar ataxias (CAs) are neurodegenerative disorders clinically characterized by a cerebellar syndrome, often accompanied by other neurological or non-neurological signs. All transmission modes have been described. In autosomal-dominant CA (ADCA), mutations in more than 30 genes are implicated, but the molecular diagnosis remains unknown in about 40% of cases. Implication of ion channels has long...

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PMID: 26456284
DOI: 10.1016/j.ajhg.2015.09.007
PMCID: PMC4667105

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A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.PMID 26456284Read ↗

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.Semantic proximity Read ↗

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.Semantic proximity Read ↗

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxiaSemantic proximity Read ↗

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.Semantic proximity Read ↗

Rare CACNA1A mutations leading to congenital ataxia.Semantic proximity Read ↗

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.Semantic proximity Read ↗

Role of a conserved glutamine in the function of voltage-gated Ca2+ channels revealed by a mutation in human CACNA1D.Semantic proximity Read ↗

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.Semantic proximity Read ↗

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.Semantic proximity Read ↗

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of PhenotypesSemantic proximity Read ↗

CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.Semantic proximity Read ↗

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