Article

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia

2019-07-08

Abstract excerpt

<h4>Background: </h4> Hereditary ataxia is a group of neurodegenerative diseases with progressive cerebellar ataxia of the gait and limbs as the main symptoms. The genetic patterns of the disease are diverse but it is mainly divided into autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA), and about 45 pathogenic loci have been found in ADCA. The purpose of this study was t...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6b8f1c6a-bd4a-5837-a97a-190bf574da63
DOI: 10.21203/rs.2.9243/v4

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxiaDOI 10.21203/rs.2.9243/v4Read

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

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2.Semantic proximity Read

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

Genetic Spectrum and Clinical Features in a Cohort of Chinese Patients with Autosomal Recessive Cerebellar AtaxiasSemantic proximity Read

A Review of the CACNA Gene Family: Its Role in Neurological DisordersSemantic proximity Read

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A GeneSemantic 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

The complexities of CACNA1A in clinical neurogenetics.Semantic proximity Read

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional ImplicationsSemantic proximity Read

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxiasSemantic proximity Read

Clinical and genetic characterization of CACNA1A ‐related diseaseSemantic proximity Read