CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes [PDF]
Frontiers in Pediatrics, 2020 Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS.
Linxia Zhang +8 more
doaj +4 more sources
Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family [PDF]
Frontiers in Neurology, 2019 Here, we describe the first case of familial hemiplegic migraine type 1 (FHM1) resulting from a T666M mutation in the CACNA1A gene of a Chinese individual.
Mengmeng Li +6 more
doaj +4 more sources
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia [PDF]
Scientific Reports, 2017 Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the ...
Cèlia Sintas +11 more
doaj +3 more sources
Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report [PDF]
BMJ Neurology OpenBackground Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor.
Shahad Bawazeer +4 more
doaj +2 more sources
Diagnostic Lag in Precision Medicine. [PDF]
Clin Pharmacol TherClinical Pharmacology &Therapeutics, EarlyView.
Heneberg P.
europepmc +2 more sources
Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report [PDF]
Frontiers in GeneticsAmyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms.
Xinyao Gao +7 more
doaj +2 more sources
Movement Disorders in Developmental and Epileptic Encephalopathies. [PDF]
Mov Disord Clin PractAbstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Mohammad S +2 more
europepmc +2 more sources
M6A modification mediates CACNA1A stability to drive the progression of ovarian cancer by inhibiting ferroptosis [PDF]
Journal of Ovarian ResearchOvarian cancer is a particularly lethal form of cancer affecting the female reproductive system. Prior research indicates a strong link between RNA epigenetic modification and the development of cancer. How different RNA modifications interact and affect
Xieyang Gong +12 more
doaj +2 more sources
Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant [PDF]
ChildrenBackground: Episodic ataxia type 2 (EA2) is the most common subtype of episodic ataxia and is primarily caused by pathogenic variants in the CACNA1A gene. Although classically characterized by paroxysmal ataxia, CACNA1A-related disorders are increasingly
Sungyeon Park +3 more
doaj +2 more sources
Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients [PDF]
BiomedicinesBackground: Familial hemiplegic migraine (FHM) is a rare and severe form of migraine disorder featuring aura symptoms that include hemiplegia during attacks.
Thais Zielke +4 more
doaj +2 more sources