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Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice
(Elsevier Science, 2015-01)
CaV2.1 Ca2+ channels play a key role in triggering neurotransmitter release and mediating synaptic transmission. Familial hemiplegic migraine type-1 (FHM-1) is caused by missense mutations in the CACNA1A gene that encodes ...
CaV2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis
(Elsevier, 2011-11)
Studies on the genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion channels have given crucial insights into the molecular mechanisms, pathogenesis, and therapeutic approaches to complex ...
Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models
(Springer Verlag Berlín, 2014)
Presynaptic Cav2.1 calcium channels carrying a familial hemiplegic migraine mutation r192q allow faster recovery from syanptic depression in mouse calyx of held
(American Physiological Society, 2012-12)
CaV2.1 Ca2+ channels have a dominant and specific role in initiating fast synaptic transmission at central excitatory synapses, through a close association between release sites and calcium sensors. Familial hemiplegic ...
Synaptic Gain-of-Function Effects of Mutant Cav2.1 Channels in a Mouse Model of Familial Hemiplegic Migraine Are Due to Increased Basal [Ca2+]i
(Society for Neuroscience, 2014-05)
Specific missense mutations in the CACNA1A gene, which encodes a subunit of voltage-gated CaV2.1 channels, are associated with familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of common migraine with ...
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
(2022)
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of ...
Caracterización de las funciones ejecutivas relacionadas con la corteza prefrontal dorsolateral en la migraña sin aura y con aura
(Universidad de San BuenaventuraBogotáFacultad de PsicologíaMaestría en Neuropsicología Clínica, 2023)
Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in C. elegans
(eLife Sciences Publications Ltd, 2019-08-05)
Mutations in pre-synaptic voltage gated calcium channels can lead to familial hemiplegic migraine type 1 (FHM1). While mammalian studies indicate that the migraine brain is hyperexcitable due to enhanced excitation or ...
Gain of function in FHM-1 Cav2.1 knock-in mice is related to the shape of the action potential
(American Physiological Society, 2010-07)
Familial hemiplegic migraine type-1 FHM-1 is caused by missense mutations in the CACNA1A gene that encodes the α1A pore-forming subunit of CaV2.1 Ca2+ channels. We used knock-in (KI) transgenic mice harboring the pathogenic ...