Results 41 to 50 of about 2,519,053 (161)

Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

Stem Cell Research, 2023
Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated channel
Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S Møller, Kristine Freude, Abinaya Chandrasekaran   +14 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

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

Frontiers in Molecular Neuroscience, 2022
PurposePreviously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2.
Xue-Lian Li, Xue-Lian Li, Zong-Jun Li, Xiao-Yu Liang, De-Tian Liu, Mi Jiang, Liang-Di Gao, Huan Li, Xue-Qing Tang, Yi-Wu Shi, Bing-Mei Li, Na He, Bin Li, Wen-Jun Bian, Yong-Hong Yi, Chuan-Fang Cheng, Chuan-Fang Cheng, Jie Wang   +17 more
doaj   +1 more source

Invesitgation of the CACNA1A Gene as a candidate for typical migraine susceptibility

, 2001
Typical migraine is a complex neurological disorder comprised of two main subtypes: migraine with (MA) and without aura (MO). The disease etiology is still unclear, but family studies provide strong evidence that defective genes play an important role ...
Hutchins, Colin, Curtain, Robert P., Brimage, PJ, Brimage, Peter J., Griffiths, Lyn, J. Brimage, Peter, Curtain, Rob, Lea, RA, Lea, Rodney, Griffiths, Lyn R., Griffiths, LR, Hutchins, C, Lea, Rod A., Curtain, RP   +13 more
core   +1 more source

Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

Cephalalgia Reports, 2019
Objective: Hemiplegic migraine in both familial (FHM) and sporadic (SHM) forms is a rare subtype of migraine with aura that can be traced to mutations in the CACNA1A , ATP1A2 and SCN1A genes.
Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths   +9 more
doaj   +1 more source

Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice [PDF]

, 2011
Loss of function mutations of the CACNA1A gene, coding for the α1A subunit of P/Q type voltage-gated calcium channel (Ca(V)2.1), are responsible for Episodic Ataxia type 2 (EA2), an autosomal dominant disorder.
Frontali, M, Iodice, C, Mantuano, E, Carla Jodice, Daniela Pesci, Elide Mantuano, Liana Veneziano, Veneziano, L, Albertosi, S, Pesci, D, Serena Albertosi, Marina Frontali, IODICE, CARLA   +12 more
core   +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

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Biomedicines, 2020
Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with ...
Neven Maksemous, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths   +4 more
doaj   +1 more source

Low SLC8A1 in Colorectal Cancer Dictates Radiotherapy Resistance Through Calcium‐Dependent ANXA2+sEVs Driving M2 Polarization of TAMs

Advanced Science, EarlyView.
SLC8A1 deficiency in colorectal cancer cells increases intracellular calcium signaling, promoting the secretion of ANXA2‐enriched small extracellular vesicles. These vesicles reprogram tumor‐associated macrophages towards an M2 phenotype, which in turn fosters a tumor microenvironment conducive to radioresistance and is associated with poor patient ...
Yimin Fang, Jinghan Zhu, Qian Xiao, Qichun Wei, Xiujing He, Ping Li, Kai Jiang, Yue Liu, Yeting Hu, Weiwei Yu, Chuansheng Guo, Sheng Chen, Jian Zhao, Siqi Dai, Jingsun Wei, Hang Yang, Tongtong Bu, Kefeng Ding, Haiyan Chen   +18 more
wiley   +1 more source

CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report

Frontiers in Neurology, 2021
Background: Glucose-transporter-1 deficiency syndrome (GLUT1-DS), due to SLC2A1 gene mutation, is characterized by early-onset seizures, which are often drug-resistant, developmental delay, and hypotonia.
Chiara Scoppola, Chiara Scoppola, Giorgio Magli, Giorgio Magli, Marta Conti, Marta Conti, Maria Fadda, Maria Fadda, Giovanni M. Luzzu, Giovanni M. Luzzu, Delia M. Simula, Delia M. Simula, Alessandra Carta, Stefano Sotgiu, Susanna Casellato, Susanna Casellato   +15 more
doaj   +1 more source