Results 41 to 50 of about 5,459 (165)

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

Frontiers in Neurology, 2021
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q.
Elisabetta Indelicato, Sylvia Boesch
doaj   +1 more source

Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.

PLoS ONE, 2015
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders. Recent studies suggested that calcium channel genes might be involved in the genetic etiology of ASD.
Jun Li, Yang You, Weihua Yue, Meixiang Jia, Hao Yu, Tianlan Lu, Zhiliu Wu, Yanyan Ruan, Lifang Wang, Dai Zhang   +9 more
doaj   +1 more source

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Molecular Brain, 2021
CACNA1A pathogenic variants have been linked to several neurological disorders including familial hemiplegic migraine and cerebellar conditions. More recently, de novo variants have been associated with severe early onset developmental encephalopathies ...
Maria A. Gandini, Ivana A. Souza, Laurent Ferron, A. Micheil Innes, Gerald W. Zamponi   +4 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

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

Annals of Medical Science and Research, 2023
West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson, Sheetal Sasikumar, Jiya Thankam Koshy   +2 more
doaj   +1 more source

Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families [PDF]

Arquivos de Neuro-Psiquiatria, 2006
Familial hemiplegic migraine (FHM) is a rare autosomal dominant form of migraine with aura. This disease has been associated with missense mutations in the CACNA1A and ATP1A2 genes.
Luciana R. Lopes, Mario Fernando Prieto Peres, Kaate R.J. Vanmolkot, Patrícia R. Tobo, Eliova Zukerman, Rune R. Frants, Arn M.J.M. van den Maagdenberg, Carlos Alberto Moreira-Filho   +7 more
doaj   +1 more source

The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews

Frontiers in Molecular Neuroscience, 2023
BackgroundGenotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders such as global developmental delay (GDD)/intellectual disability (ID), epileptic encephalopathy (EE), and autism spectrum disorder (ASD) are unknown.
Miriam Kessi, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Baiyu Chen, Nan Pang, Nan Pang, Nan Pang, Lifen Yang, Lifen Yang, Lifen Yang, Jing Peng, Jing Peng, Jing Peng, Fang He, Fang He, Fang He, Fei Yin, Fei Yin, Fei Yin   +20 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

Head tremor related to CACNA1A mutations

, 2011
Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (
Geerlings, Rianne Pj, Geerlings, R.P.J., Haane, D.Y.P., Elles MJ Boon, Haan, J., Koehler, Peter J., Rianne PJ Geerlings, Haane, Danielle Yp, Boukje de Vries, Boon, Elles Mj, Stam, Anine H., Stam, A.H., Boon, E.M.J., De Vries, Boukje, Vries, B. de, Joost Haan, Haan, Joost, Danielle YP Haane, Koehler, P.J., Anine H Stam, Peter J Koehler   +20 more
core   +1 more source

Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients

Orphanet Journal of Rare Diseases, 2021
Background Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the
Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish, Abolfazl Movafagh   +5 more
doaj   +1 more source