Cacna1a gene - Open Access .click

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Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2250-2258, September 2026.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre +21 more
core +1 more source

Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A

Frontiers in Neurology
Pathogenic heterozygous variants in CACNA1A are associated with familial hemiplegic migraine, episodic ataxia type 2 and spinocerebellar ataxia type 6, and more recently, neurodevelopmental disorders. We describe a severe, early-onset phenotype including
Dilbar Mammadova +10 more
doaj +1 more source

New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia. [PDF]

J Mov Disord, 2021
Saathoff Y, Biskup S, Funke C, Roth C.
europepmc +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, Volume 41, Issue 9, Page 2523-2528, September 2026.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr +4 more
wiley +1 more source

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

Movement Disorders Clinical Practice, EarlyView.
Clément Desjardins +9 more
wiley +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, Volume 41, Issue 9, Page 2267-2277, September 2026.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova +5 more
wiley +1 more source

Phenotypic variability in cases with CACNA1A mutation [PDF]

The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with different variants. The overlapping features and varying phenotypic characteristics of these neurological disorders pose
Aliyeva, Nargiz +6 more
core +1 more source

CACNA1A variant associated with generalized dystonia

Introduction CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1.
Rizzone, Mario Giorgio +6 more
core +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

Movement Disorders, Volume 41, Issue 9, Page 2476-2489, September 2026.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen +320 more
wiley +1 more source

cacna1a
episodic ataxia type 2
hemiplegic migraine

migraine
ataxia
familial hemiplegic migraine

medicine
encephalopathy
epilepsy