Results 31 to 40 of about 234,110 (135)

Astrocyte deletion of α2-Na/K ATPase triggers episodic motor paralysis in mice via a metabolic pathway

Nature Communications, 2020
Mutations of α2-Na/K ATPase can cause familial hemiplegic migraine via unclear mechanisms. Here, the authors show that deletion of α2-Na/K ATPase in astrocytes results in gene expression and metabolic changes leading to cortical spreading depression and ...
Sarah E. Smith, Xiaoying Chen, Lindsey M. Brier, Jonathan R. Bumstead, Nicholas R. Rensing, Alison E. Ringel, Haewon Shin, Anna Oldenborg, Jan R. Crowley, Annie R. Bice, Krikor Dikranian, Joseph E. Ippolito, Marcia C. Haigis, Thomas Papouin, Guoyan Zhao, Michael Wong, Joseph P. Culver, Azad Bonni   +17 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

Repetitive Daily Blindness with Hemiplegic Migraine and SCN1A Mutations

Pediatric Neurology Briefs, 2009
Two novel SCN1A mutations are identified in two unrelated families with familial hemiplegic migraine and a unique phenotype of elicited repetitive daily blindness, in a report from Hopital Lariboisiere, and other centers in Paris, France, and Geneva ...
J Gordon Millichap
doaj   +1 more source

Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.

Journal of Biochemical and Clinical Genetics, 2019
Background: Familial hemiplegic migraine (FHM) is a rare disorder presented commonly with coma, hyperthermia, and headache. FHM is usually associated with fully reversible motor weakness as a specific symptom of aura.
Waleed Altwaijri, Fuad Almalki, Ahmed Al-Rumayyan, Safiyyah Asiri   +3 more
doaj   +1 more source

Case report When Hemiplegic Migraine Defies Expectations: Diagnostic Complexity in a Rare Genetic Disorder

Case Reports in Neurology
This case describes a diagnostically challenging presentation of familial hemiplegic migraine, combining prolonged hemiparesis, severe headaches, altered consciousness and fever.
Amandine Goossens, Vincenzo Pignato, Ann-Laurence Delabie, Tanguy Demaret, Deniz Karadurmus   +4 more
doaj   +1 more source

Lessons from Familial Hemiplegic Migraine and Cortical Spreading Depression [PDF]

, 2017
Migraine is a common episodic neurological disorder with complex pathophysiology. It is generally recognized that: most migraine attacks start in the brain; migraine headache depends on the activation and sensitization of the trigeminovascular pain ...
Daniela Pietrobon, Pietrobon Daniela
core   +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

Is Neuronal Fatigue the Cause of Migraine?

Brain Sciences, 2022
The pathological basis of migraine is not fully understood. Familial hemiplegic migraines (FHM) are monogenic forms of severe migraine, caused by mutations in genes encoding various neuronal and/or astrocytic ion transporting proteins.
Michael Pusch, Paola Gavazzo
doaj   +1 more source

Exploring the Hereditary Nature of Migraine

Neuropsychiatric Disease and Treatment, 2021
Charlene Bron, Heidi G Sutherland, Lyn R Griffiths Queensland University of Technology (QUT), Centre for Genomics and Personalised Health, Genomics Research Centre, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland,
Bron C, Sutherland HG, Griffiths LR
doaj  

Familial Hemiplegic Migraine With ATP1A2 Mutations

Pediatric Neurology Briefs, 2007
Three children with prolonged hemiplegia following severe unilateral headache and having mutations in ATP1A2 are reported from UCLA School of Medicine, Los Angeles, CA; University Children’s Hospital, Zurich, Switzerland; and Wake Forest University ...
J Gordon Millichap
doaj   +1 more source