Results 101 to 110 of about 5,459 (165)

L'association entre les variants CACNA1A et ATP1A2 est responsable d'un trouble neurodéveloppemental sévère [PDF]

peer reviewedATP1A2 and CACNA1A genes encode proteins forming transmembrane channels, Na+/K+/ATPase transporter and voltage-gated calcium channel, respectively.
CABERG, Jean-Hubert, Mouraux, Charlotte, Depierreux, Frédérique, Alkan, Serpil   +3 more
core   +2 more sources

Cacna1a mutant neurons display lysosomal fusion defects.

, 2015
A. LysoTracker Red staining of the primary cerebella neurons from Cacna1atg-la mice and WT controls. The control cells show big bright punctae, while the mutant cells have much dimmer and smaller punctae. B, C and D.
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

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

, 1999
OBJECTIVE: To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum.
Denier, C, Autret, A, Roullet, E, Tournier-Lasserve, E, Vahedi, Kouroche, Gérard, Philippe, Deonna, T, Perrouty, B, Van Bogaert, Patrick, Thierry, P, Alamowitch, S, Ducros, A, Devoize, J L, Joutel, A, Gayou, A, Ritz, A, Castelnovo, G, Soisson, T, Warter, Jean-Marie, Vighetto, A   +19 more
core  

Poor mother-offspring relationships in rats with Cacna1a mutation

Homozygous Groggy dams, which carry a Cacna1a missense mutation, often show no interest in their offspring, leading to frequent offspring deaths due to lack of nurturing.
Kobayashi, Kiyoka, Ohmori, Iori, Kawakami, Nozomi, Nishimura, Ayumu   +3 more
core   +1 more source

Parvalbumin interneuron activation rescues both seizures and impaired social novelty in digenic absence epilepsy mice. [PDF]

Sci Adv
Miao QL, Okoh J, Asan AS, Karedia S, Pan JQ, Costa-Mattioli M, Noebels JL.   +6 more
europepmc   +1 more source

Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients. [PDF]

Biomedicines
Zielke T, Sutherland HG, Maksemous N, Smith RA, Griffiths LR.   +4 more
europepmc   +1 more source

Progressive Nystagmus and Ataxia: A Novel Phenotype and Mutation of CACNA1A

Genetic disorders affecting the cerebellum are an uncommon but important cause of gaze-evoked nystagmus and ataxia in children and adolescents, including spinocerebellar ataxias (SCA), Friedreich ataxia, and episodic ataxias (EA).
Robert Goodrich; Jaclyn Martindale; Timothy Martin; Jennifer Harmon
core  

CACNA1A c.5610del in a three-generation family: epilepsy with ataxia/migraine. [PDF]

BMC Neurol
Long Z, Gong S, Ji D, Guo X, Sui L, Yang X, Yu J.   +6 more
europepmc   +1 more source

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias. [PDF]

Cerebellum
Indelicato E, Nachbauer W, Amprosi M, Pellerin D, Mangesius S, Gizewski ER, Kiechl S, Brais B, Boesch S, Krismer F, Alzheimer’s Disease Neuroimaging Initiative.   +10 more
europepmc   +1 more source

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings. [PDF]

Front Neurol
de Gusmao CM, Garcia LHMR, Mink JW, Paciorkowski AR, Pringsheim T, Della Ripa BA, Rauffus CS, Coan AC, Silveira-Moriyama L.   +8 more
europepmc   +1 more source