Results 21 to 30 of about 5,459 (165)

Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies

Frontiers in Molecular Neuroscience, 2020
The P/Q-type CaV2.1 channel regulates neurotransmitter release at neuromuscular junctions (NMJ) and many central synapses. CACNA1A encodes the pore-containing α1A subunit of CaV2.1 channels.
Sidharth Tyagi, Angeles B. Ribera, Roger A. Bannister, Roger A. Bannister   +3 more
doaj   +1 more source

The complexities of CACNA1A in clinical neurogenetics

, 2022
Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. Over the years, CACNA1A has been associated with a broader spectrum of phenotypes.
Warrenburg, B.P.C. van de, Schouten, M.I., Pennings, Maartje, Kamsteeg, E.J., Bokhoven, H. van, Prooije, T.H. van, Hommersom, M.P.   +6 more
core   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation. [PDF]

, 2015
Spinocerebellar Ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia. It is one of three allelic disorders associated to CACNA1A gene, coding for the Alpha1
Veneziano, L, Frontali, M, Mantuano, E, Liana eVeneziano, Elide Mantuano, Liana Veneziano, Giunti, P, Elide eMantuano, Marina Frontali, Paola eGiunti, Marina eFrontali, Paola Giunti   +11 more
core   +1 more source

Phenotypic variability in cases with CACNA1A mutation. [PDF]

Eur J Pediatr
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
Bozkaya-Yilmaz S, Olgac-Dundar N, Aliyeva N, Ersen A, Gencpinar P, Gungor M, Hiz AS, Yis U, Sarikaya-Uzan G, Sarigecili E, Kirik S, Erol I, Besen S, Kayilioglu H, Haspolat S, Kipoglu O, Ekici A, Turay S, Tosun A, Ayanoglu M, Danis A, Hancı F, Kutbay YB, Ozyilmaz B, Kara B.   +24 more
europepmc   +3 more sources

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy [PDF]

, 2017
Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is
Chang Liu, Li Cui, Lv YD, Cui L, Yudan Lv, Liu C, Zan Wang, Wang Z   +7 more
core   +1 more source

Next generation sequencing identifies novel CACNA1A gene mutations in Episodic Ataxia type 2 [PDF]

, 2016
Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of
Griffiths, Lyn R., Roy, Bishakha, Maksemous, Neven, Smith, Robert A.   +3 more
core   +1 more source

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Biomedical Papers, 2017
Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak   +10 more
doaj   +1 more source

A novel CACNA1A variant in a child with early stroke and intractable epilepsy

Molecular Genetics & Genomic Medicine, 2020
Background CACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine, ataxia, cognitive delay, and epilepsy. To date, ischemic stroke caused by a CACNA1A variant has only
Franciska J. Gudenkauf, Mahshid S. Azamian, Jill V. Hunter, Anuranjita Nayak, Seema R. Lalani   +4 more
doaj   +1 more source

Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A

Radiology Case Reports, 2021
Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability.
Chang Y. Ho, MD, Harrison L. Love, MSIV, Deborah K. Sokol, MD, Laurence E. Walsh, MD   +3 more
doaj   +1 more source

Peculiarities of Hemiplegic Migraine in Children

Вопросы современной педиатрии, 2016
The article describes the individual peculiarities of a rare disease — hemiplegic migraine — in 3 patients (two girls aged 2 and 14 years old and a boy of 16 years).
S. L. Moiseeva, C. Betzler, T. Herberholdt, G. Kluger, M. Staudt   +4 more
doaj   +1 more source