Results 41 to 50 of about 234,110 (135)

CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]

, 2002
Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
core   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source

Migraine‐Associated Mutation in the Na,K‐ATPase Leads to Disturbances in Cardiac Metabolism and Reduced Cardiac Function

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Mutations in ATP1A2 gene encoding the Na,K‐ATPase α2 isoform are associated with familial hemiplegic migraine type 2. Migraine with aura is a known risk factor for heart disease.
Christian Staehr, Palle Duun Rohde, Nikolaj Thure Krarup, Steffen Ringgaard, Christoffer Laustsen, Jacob Johnsen, Rikke Nielsen, Hans Christian Beck, Jens Preben Morth, Karin Lykke‐Hartmann, Nichlas Riise Jespersen, Denis Abramochkin, Mette Nyegaard, Hans Erik Bøtker, Christian Aalkjaer, Vladimir Matchkov   +15 more
doaj   +1 more source

A metabolic link between the astrocytic α2-Na/K ATPase and episodic paralysis

Communications Biology, 2021
While loss-of-function mutations affecting the α2-Na/K ATPase are known to cause familial hemiplegic migraine, it is unclear how reduced protein activity could contribute toward migraine or paralysis observed in patients.
George Andrew S. Inglis
doaj   +1 more source

Familial hemiplegic migraine and spreading depression. [PDF]

Iran J Child Neurol, 2014
How to Cite This Article: Kazemi H, Speckmann EJ, Gorji A. Familial Hemiplegic Migraine and Spreading Depression. Iran J Child Neurol. 2014 Summer;8(3): 6-11.
Kazemi H, Speckmann EJ, Gorji A.
europepmc   +2 more sources

Familial hemiplegic migraine: a new gene in an italian family [PDF]

, 2019
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral and pulsating headache (associated with photophobia, phonophobia or nausea).
Stefano Castellana3, Pietro Palumbo1#, Orazio Palumbo1#, Grazia Pastorino2, Mazza, Tommaso, Palumbo, Pietro, Felicia Operto, Francesca, Giangennaro Coppola, Castellana, Stefano, Carella, Massimo, Coppola, Giangennaro, Tommaso Mazza3, Palumbo, Orazio, DI MURO, ESTER, Pastorino, Grazia, Francesca Felicia Operto2, Ester Di Muro1, Tommaso Biagini3, 4, Massimo Carella, Leone, Maria Pia, Maria Pia Leone1, Biagini, Tommaso   +22 more
core   +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

Familial Migraine with Vertigo and Tremor

Pediatric Neurology Briefs, 1996
A family with dominantly inherited migraine headaches, episodic vertigo, and essential tremor is reported from the UCLA School of Medicine, Los Angeles, CA.
J Gordon Millichap
doaj   +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

Monozygotic twin sisters discordant for familial hemiplegic migraine [PDF]

, 2013
Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM).
Brandão, A., Rui Barreto, Cristina Ramos, Barros, J., Jorge Sequeiros, Damásio, J., Ana Filipa Brandão, Barreto, R., Joana Damásio, Isabel Alonso, Joana Domingos, Ramos, C., Lemos, C., Pereira-Monteiro, J., Carolina Lemos, Domingos, J., José Pereira-Monteiro, Sequeiros, J., Alonso, I., José Barros   +19 more
core   +2 more sources