Results 21 to 30 of about 2,519,053 (161)

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

The Journal of Headache and Pain, 2021
Background and aims Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial.
Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono   +6 more
doaj   +1 more source

R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

Case Reports in Neurology, 2021
Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy.
Anker Stubberud, Emer O’Connor, Erling Tronvik, Henry Houlden, Manjit Matharu   +4 more
doaj   +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

Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: case reports and a literature review

Frontiers in Pediatrics, 2023
IntroductionHemiplegic migraine (HM) is a rare subtype of migraine. HM in children may be atypical in the initial stage of the disease, which could easily lead to misdiagnosis.MethodsWe report two cases of atypical hemiplegic migraine that onset as an ...
Yu Xiang, Fei Li, Zhenfeng Song, Zhi Yi, Chengqing Yang, Jiao Xue, Ying Zhang   +6 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

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

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

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

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

Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats [PDF]

, 2020
This study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double
Kobayashi, Kiyoka, Ouchida, Mamoru, Ohmori, Iori   +2 more
core   +2 more sources