Results 21 to 30 of about 7,269 (167)

Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2

Neurobiology of Disease, 2017
Episodic Ataxia type 2 (EA2) is an autosomal dominant neuronal disorder linked to mutations in the Cav2.1 subunit of P/Q-type calcium channels. In vitro studies have established that EA2 mutations induce loss of channel activity and that EA2 mutants can ...
Kevin Dorgans, Julie Salvi, Federica Bertaso, Ludivine Bernard, Philippe Lory, Frederic Doussau, Alexandre Mezghrani   +6 more
doaj   +1 more source

Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9

Stem Cell Research, 2022
CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2.
Marina P. Hommersom, Chantal Bijnagte-Schoenmaker, Silvia Albert, Bart P.C. van de Warrenburg, Nael Nadif Kasri, Hans van Bokhoven   +5 more
doaj   +1 more source

RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2

Neurobiology of Disease, 2014
Episodic ataxia type-2 (EA2) is a dominantly inherited human neurological disorder caused by loss of function mutations in the CACNA1A gene, which encodes the CaV2.1 subunit of P/Q-type voltage-gated calcium channels.
Julie Salvi, Federica Bertaso, Anne-Laure Mausset-Bonnefont, Alexandra Metz, Céline Lemmers, Fabrice Ango, Laurent Fagni, Philippe Lory, Alexandre Mezghrani   +8 more
doaj   +1 more source

Case Report: A Novel CACNA1A Mutation Caused Flunarizine-Responsive Type 2 Episodic Ataxia and Hemiplegic Migraine With Abnormal MRI of Cerebral White Matter

Frontiers in Neurology, 2022
Episodic ataxia type 2 (EA2) is one autosomal-dominant neurological disorder characterized by debilitating attacks of ataxia. It is mainly caused by loss-of-function mutations of the CACNA1A gene, which encodes the pore-forming α1A subunit of Cav2.1 (P/Q
Xiaoqiu Yuan, Yiming Zheng, Feng Gao, Wei Sun, Zhaoxia Wang, Guiping Zhao   +5 more
doaj   +1 more source

ON/OFF Phenomenon in 4-Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Caneda C, Bertoncello E, Peghin A, Satolli S, Santorelli FM, Tinazzi M, Di Vico IA.   +6 more
europepmc   +2 more sources

Febrile Episodic Ataxia with Novel Mutation

Pediatric Neurology Briefs, 2004
An episodic ataxia type 2 (EA2) kindred with ataxic spells induced by fever or high environmental temperature and a novel CACNA1A mutation were identified and reported from the Universities of Mississippi and Minnesota.
J Gordon Millichap
doaj   +1 more source

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

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, Linxia Zhang, Yongxin Wen, Qingping Zhang, Yan Chen, Jiaping Wang, Kaili Shi, Lijun Du, Xinhua Bao   +8 more
doaj   +1 more source

Familial Hemiplegic Migraine Type 1 Associated with Parkinsonism: A Case Report

Case Reports in Neurology, 2015
Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13.
Marie Bruun, Lena Elisabeth Hjermind, Carsten Thomsen, Else Danielsen, Lise Lykke Thomsen, Lars Hageman Pinborg, Nastaran Khabbazbavani, Joergen Erik Nielsen   +7 more
doaj   +1 more source

Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies. [PDF]

Mov Disord Clin Pract
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Morales-Briceño H, Mohammad SS, Angiti RR, Han V, Tchan M, Dale RC, Fung VSC.   +6 more
europepmc   +2 more sources

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

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, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand   +11 more
doaj   +1 more source