Results 11 to 20 of about 34,604,755 (154)

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

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   +2 more sources

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 [PDF]

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   +4 more sources

Anàlisi genètica i funcional de la migranya hemiplègica i la migranya comuna [PDF]

, 2011
[cat] Aquesta tesi es centra en la genètica de la migranya. La migranya comuna és un trastorn neurològic caracteritzat per episodis recurrents de mal de cap.
Carreño, Oriel
core   +6 more sources

Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice. [PDF]

J Neurosci, 2011
Familial hemiplegic migraine type 1, a monogenic migraine variant with aura, is linked to gain-of-function mutations in theCACNA1Agene encoding CaV2.1 channels.
Eikermann-Haerter K, Yuzawa I, Qin T, Wang Y, Baek K, Kim YR, Hoffmann U, Dilekoz E, Waeber C, Ferrari MD, van den Maagdenberg AM, Moskowitz MA, Ayata C.   +12 more
europepmc   +2 more sources

Overexpressed NaV1.7 Channels Confer Hyperexcitability to in vitro Trigeminal Sensory Neurons of CaV2.1 Mutant Hemiplegic Migraine Mice

Frontiers in Cellular Neuroscience, 2021
Trigeminal sensory neurons of transgenic knock-in (KI) mice expressing the R192Q missense mutation in the α1A subunit of neuronal voltage-gated CaV2.1 Ca2+ channels, which leads to familial hemiplegic migraine type 1 (FHM1) in patients, exhibit a ...
Riffat Mehboob, Riffat Mehboob, Anna Marchenkova, Arn M. J. M. van den Maagdenberg, Arn M. J. M. van den Maagdenberg, Andrea Nistri   +5 more
doaj   +1 more source

Widespread brain parenchymal HMGB1 and NF-κB neuroinflammatory responses upon cortical spreading depolarization in familial hemiplegic migraine type 1 mice

Neurobiology of Disease, 2021
Neuroinflammatory changes involving neuronal HMGB1 release and astrocytic NF-κB nuclear translocation occur following cortical spreading depolarization (CSD) in wildtype (WT) mice but it is unknown to what extent this occurs in the migraine brain.
Anisa Dehghani, Thas Phisonkunkasem, Sinem Yilmaz Ozcan, Turgay Dalkara, Arn M.J.M. van den Maagdenberg, Else A. Tolner, Hulya Karatas   +6 more
doaj   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S., Benninger, C., Schwab, S., Spranger, Matthias, Dichgans, Martin   +4 more
core   +1 more source

P/Q-type calcium-channel blockade in the periaqueductal gray facilitates trigeminal nociception: a functional genetic link for migraine? [PDF]

, 2002
The discovery of mis-sense mutations in the alpha1A subunit of the P/Q-type calcium channel in patients with familial hemiplegic migraine indicates the potential involvement of dysfunctional ion channels in migraine.
Goadsby, PJ, Yolande E. Knight, Knight, Yolande E., Knight, YE, Goadsby, Peter J., Bartsch, Thorsten, Peter J. Goadsby, Kaube, Holger, Holger Kaube, Kaube, H, Thorsten Bartsch, Bartsch, T   +11 more
core   +1 more source

New CACNA1A deletions are associated to migraine phenotypes

The Journal of Headache and Pain, 2018
Background Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected.
G. S. Grieco, S. Gagliardi, I. Ricca, O. Pansarasa, M. Neri, F. Gualandi, G. Nappi, A. Ferlini, C. Cereda   +8 more
doaj   +1 more source

Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies

Frontiers in Molecular Neuroscience, 2020
The P/Q-type CaV2.1 channel regulates neurotransmitter release at neuromuscular junctions (NMJ) and many central synapses. CACNA1A encodes the pore-containing α1A subunit of CaV2.1 channels.
Sidharth Tyagi, Angeles B. Ribera, Roger A. Bannister, Roger A. Bannister   +3 more
doaj   +1 more source