Results 21 to 30 of about 34,604,755 (154)

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

Aura and Stroke: relationship and what we have learnt from preclinical models

The Journal of Headache and Pain, 2019
Background Population-based studies have highlighted a close relationship between migraine and stroke. Migraine, especially with aura, is a risk factor for both ischemic and hemorrhagic stroke.
Muge Yemisci, Katharina Eikermann-Haerter   +1 more
doaj   +1 more source

Upregulation of IL-1 Receptor Antagonist in a Mouse Model of Migraine

Brain Sciences, 2019
Migraine is a disorder characterized by attacks of monolateral headaches, often accompanied by nausea, vomiting, and photophobia. Around 30% of patients also report aura symptoms.
Salvo Danilo Lombardo, Emanuela Mazzon, Maria Sofia Basile, Eugenio Cavalli, Placido Bramanti, Riccardo Nania, Paolo Fagone, Ferdinando Nicoletti, Maria Cristina Petralia   +8 more
doaj   +1 more source

Gain-of-function mutations in the UNC-2/CaV2α channel lead to excitation-dominant synaptic transmission in Caenorhabditis elegans

eLife, 2019
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 reduced inhibition, the molecular ...
Yung-Chi Huang, Jennifer K Pirri, Diego Rayes, Shangbang Gao, Ben Mulcahy, Jeff Grant, Yasunori Saheki, Michael M Francis, Mei Zhen, Mark J Alkema   +9 more
doaj   +1 more source

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

BMC Neurology, 2020
Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation.
Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana   +7 more
doaj   +1 more source

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

Frontiers in Neurology, 2021
Ion channel dysfunction is a key pathological substrate of episodic neurological disorders. A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q.
Elisabetta Indelicato, Sylvia Boesch
doaj   +1 more source

Synaptic alterations in visual cortex reshape contrast-dependent gamma oscillations and inhibition-excitation ratio in a genetic mouse model of migraine

The Journal of Headache and Pain, 2022
Background Migraine affects a significant fraction of the world population, yet its etiology is not completely understood. In vitro results highlighted thalamocortical and intra-cortical glutamatergic synaptic gain-of-function associated with a monogenic
Nicolò Meneghetti, Chiara Cerri, Eleonora Vannini, Elena Tantillo, Angelita Tottene, Daniela Pietrobon, Matteo Caleo, Alberto Mazzoni   +7 more
doaj   +1 more source

Familial Hemiplegic Migraine and Spreading Depression [PDF]

, 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.
SPECKMANN, Erwin Josef, KAZEMI, Hadi, GORJI, Ali   +2 more
core   +1 more source

Characterizing a Novel Metabolic Pathogenic Mechanism in Familial Hemiplegic Migraine [PDF]

, 2021
Migraine, an episodic neurological disorder, afflicts about 1 in 10 people at least monthly, yet the underlying pathophysiological mechanisms remain poorly understood.
Smith, Sarah Elizabeth
core   +1 more source

Mutated Ca2.1 Channels Dysregulate CASK/P2X3 Signaling in Mouse Trigeminal Sensory Neurons of R192Q Cacna1a Knock-in Mice

Molecular Pain, 2013
Background ATP-gated P2X3 receptors of sensory ganglion neurons are important transducers of pain as they adapt their expression and function in response to acute and chronic nociceptive signals.
Aswini Gnanasekaran, Tanja Bele, Swathi Hullugundi, Manuela Simonetti, Michael D Ferrari, Arn MJM van den Maagdenberg, Andrea Nistri, Elsa Fabbretti   +7 more
doaj   +1 more source