Results 41 to 50 of about 54,391 (157)

Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family

Frontiers in Neurology, 2019
Here, we describe the first case of familial hemiplegic migraine type 1 (FHM1) resulting from a T666M mutation in the CACNA1A gene of a Chinese individual.
Mengmeng Li, Xiangyu Zheng, Rui Zhong, Qian Zhao, Yingxue Lu, Zan Wang, Weihong Lin   +6 more
doaj   +1 more source

Clinical burden and healthcare resource use of congenital thrombotic thrombocytopenic purpura in England: A linked primary and secondary care data analysis

British Journal of Haematology, Volume 209, Issue 1, Page 248-256, July 2026.
Summary Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra rare haematological disorder. This study aimed to estimate the clinical burden, healthcare resource use (HCRU) and associated costs of cTTP in England using primary and secondary care data. A retrospective cohort study was undertaken using the Clinical Practice Research Datalink (
Erin Barker, Will Lester, Heather Riley, Monica Garrett, Amie Padhiar, Annie Berkley, Sudhakar Manne, Umesh Doobaree, Oliver Heard   +8 more
wiley   +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

Steroids for Drug‐Resistant Seizures and Prolonged Stroke‐Like Episode in a Patient With Sturge–Weber Syndrome: A Case Report

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 159-166, June 2026.
ABSTRACT Introduction Sturge–Weber syndrome (SWS) brain involvement has been associated with impairments in the blood–brain barrier (BBB) and microglial activation within involved cortical regions. Acute neurological crises, including seizures, stroke‐like episodes, and/or significant headaches, are common in these patients.
Brenna N. Keam, Fabiola A. Morales‐Vias, Siddharth S. Gupta, Doris D. Lin, Anne M. Comi   +4 more
wiley   +1 more source

Minor Head Trauma Induced Sporadic Hemiplegic Migraine (SHM) Coma

, 2006
Familial hemiplegic migraine is a severe, rare subtype of migraine. Gene mutations on chromosome 19 have been identified in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene (chromosome 19p13) for familial hemiplegic migraine ...
Smith, Robert L., Curtain, Rob, Curtain, Robert P., Griffiths, Lyn R., Smith, Robert, Ovcaric, Micky, Griffiths, Lyn, Ovcaric, Mick   +7 more
core   +1 more source

Inefficient constitutive inhibition of P2X3 receptors by brain natriuretic peptide system contributes to sensitization of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine

Molecular Pain, 2016
Background On trigeminal ganglion neurons, pain-sensing P2X3 receptors are constitutively inhibited by brain natriuretic peptide via its natriuretic peptide receptor-A. This inhibition is associated with increased P2X3 serine phosphorylation and receptor
Anna Marchenkova PhD, Sandra Vilotti PhD, Niels Ntamati MS, Arn MJM van den Maagdenberg PhD, Andrea Nistri MD   +4 more
doaj   +1 more source

Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family

Frontiers in Cellular Neuroscience, 2017
Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of cytokines activated in various forms of migraine, including those with a ...
Svetlana F. Khaiboullina, Elena G. Mendelevich, Leyla H. Shigapova, Elena Shagimardanova, Guzel Gazizova, Alexey Nikitin, Ekaterina Martynova, Yuriy N. Davidyuk, Enver I. Bogdanov, Oleg Gusev, Oleg Gusev, Oleg Gusev, Arn M. J. M. van den Maagdenberg, Rashid A. Giniatullin, Rashid A. Giniatullin, Albert A. Rizvanov   +15 more
doaj   +1 more source

Genetics of migraine: where are we now?

The Journal of Headache and Pain, 2023
Migraine is a complex brain disorder explained by the interaction of genetic and environmental factors. In monogenic migraines, including familial hemiplegic migraine and migraine with aura associated with hereditary small-vessel disorders, the ...
Lou Grangeon, Kristin Sophie Lange, Marta Waliszewska-Prosół, Dilara Onan, Karol Marschollek, Wietse Wiels, Petr Mikulenka, Fatemeh Farham, Cédric Gollion, Anne Ducros, on behalf of the European Headache Federation School of Advanced Studies (EHF-SAS)   +10 more
doaj   +1 more source

Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

, 2008
The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine. We present three siblings with the mutation with the novel association of childhood seizures, and highlight the dynamic changes seen on ...
Chan, Yee-Cheun, Chew, S.-E., Sharma, V., Ong, B.K.C., Wilder-Smith, Einar, Chew, Soh-Eng, Wilder-Smith, E., Burgunder, Jean-Marc, Sharma, Vijay, Chan, Y.-C., Ong, Benjamin K C, Lam-Mok-Sing, K.M.J., Lam-Mok-Sing, Karen M J, Burgunder, J.-M.   +13 more
core   +1 more source

Adverse Drug Reaction Study of Botulinum Toxin‐A in the Real World

Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Despite the increasing use of botulinum toxin type A (BoNT‐A) in aesthetic and therapeutic applications, its real‐world adverse drug reaction (ADR) profile remains incompletely characterized. Current evidence relies largely on small‐scale clinical observations rather than large, systematic analyses.
Jiaxu Gu, Yue Sun, Kexin Chen, Jieyi Wang, Bingcheng Lu, Hongqiang Xie, Xiaoming Liu, Cong Huang, Xingling Jian, Bo Yu   +9 more
wiley   +1 more source