Results 31 to 40 of about 5,459 (165)

Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia

Case Reports in Neurological Medicine, 2021
CACNA1A encodes the pore-forming α1 subunit of the neuronal voltage-gated Cav2.1 (P/Q-type) channels, which are predominantly localized at the presynaptic terminals of the brain and cerebellar neurons and play an important role in controlling ...
Benjamin Stampfl, Dominic Fee
doaj   +1 more source

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

BMC Neurology, 2020
Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation.
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana   +7 more
doaj   +1 more source

Prolonged neurologic deficits with brain MRI changes following ECT in an adolescent with a CACNA1a-related disorder; a case report

BMC Neurology, 2022
Background Electroconvulsive therapy is used to treat depression and schizophrenia with infrequent use in pediatric patients. We report a case of an adolescent with autism spectrum disorder and acute catatonia that presented with status epilepticus (SE ...
Joseph Vithayathil, Colbey Freeman, Marin Jacobwitz, Erin Simon Schwartz, Sonika Agarwal   +4 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

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PLoS ONE, 2013
Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been ...
Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan   +4 more
doaj   +1 more source

Detection of a Novel Mutation in the CACNA1A gene [PDF]

, 2012
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. It is divided into three subtypes FHM1, FHM2 and FHM3, which are caused by mutations in the CACNA1A, ATP1A2 and SCN1A genes respectively.
Stuart, Shani, Griffiths, Lyn R, Davis, Gail, Maksemous, Nevene, Griffiths, Lyn R., Roy, Bishakha, Smith, Robert, Griffiths, Lyn, Maksemous, Neven, Davies, Gail   +9 more
core   +2 more sources

CACNA1A localizes to the lysosomes.

, 2015
A. CACNA1A co-localizes with LAMP1 in primary cerebellar cultures of both CTL and Cacna1atg-la mutants. Scale bars, 20 μm. B. CACNA1A is present as punctae on the Vacuolin-1 enlarged LAMP1 positive lysosomes in primary cerebellar cultures of both CTL and
Upasana Gala (713001), Roy V. Sillitoe (713004), Yongping Zhang (474940), Manish Jaiswal (115384), Hugo J. Bellen (115405), Alberto di Ronza (713003), Xuejun Tian (603758), Lita Duraine (115395), Hector Sandoval (115387), Shinya Yamamoto (115402), Weina Shang (713002), Kartik Venkatachalam (556489), Chao Tong (389167), Sonal Nagarkar Jaiswal (403935), Marco Sardiello (7720), Hengyu Fan (713005)   +15 more
core   +1 more source

Hippocampus-related cognitive disorders develop in the absence of epilepsy and ataxia in the heterozygous Cacna1a mutant mice tottering

Channels, 2022
CACNA1A-associated epilepsy and ataxia frequently accompany cognitive impairments as devastating co-morbidities. However, it is unclear whether the cognitive deficits are consequences secondary to the neurological symptoms elicited by CACNA1A mutations ...
Akito Nakao, Katsumi Hayashida, Hiroo Ogura, Yasuo Mori, Keiji Imoto   +4 more
doaj   +1 more source

2-Hydroxy-4-n-octyloxybenzophenone induces developmental neurotoxicity and multiple sclerosis-like symptoms through cacna1a regulated Ca2 + inward flow and microglial activation

Ecotoxicology and Environmental Safety
2-Hydroxy-4-n-octyloxybenzophenone (UV-531) is a UV absorber widely used in infrastructure, cosmetics, and rubber products. The previous study found that UV-531 exposure irritate the skin and interfere with androgen secretion.
Xinjia Li, Xin Gao, Siyuan Liu, Siyu Liu, Yanao Liu, Li Gao, Lijie Xia, Kechun Liu, Meng Jin   +8 more
doaj   +1 more source

Case report of novel gene mutation causing episodic ataxia type 2

SAGE Open Medical Case Reports, 2017
Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with
David Alan Isaacs, Michael J Bradshaw, Kelly Brown, Peter Hedera   +3 more
doaj   +1 more source