Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Rare CACNA1A mutations leading to congenital ataxia.

Pflugers Archiv : European journal of physiology - 1 Jul 2020

Izquierdo-Serra Mercè, Fernández-Fernández José M, Serrano Mercedes

Abstract excerpt

Human mutations in the CACNA1A gene that encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 (P/Q-type) Ca2+ channel cause multiple neurological disorders including sporadic and familial hemiplegic migraine, as well as cerebellar pathologies such as episodic ataxia, progressive ataxia, and early-onset cerebellar syndrome consistent with the definition of congenital ataxia (CA), with presentation...

Topics

Amino Acid Sequence
Animals
Ataxia
Calcium Channels
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32458086
DOI: 10.1007/s00424-020-02396-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare CACNA1A mutations leading to congenital ataxia.PMID 32458086Read ↗

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

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Semantic proximity Read ↗

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

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation SequencingSemantic proximity Read ↗

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.Semantic proximity Read ↗

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.Semantic proximity Read ↗

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

Episodic ataxias.Semantic proximity Read ↗

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.Semantic proximity Read ↗

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

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A MutationSemantic proximity Read ↗

Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.