Voltage-gated ion channels and hereditary disease

F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …

[HTML][HTML] The stroke-migraine depolarization continuum

JP Dreier, C Reiffurth - Neuron, 2015 - cell.com
The term spreading depolarization (SD) refers to waves of abrupt, sustained mass
depolarization in gray matter of the CNS. SD, which spreads from neuron to neuron in …

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk… - Cell, 1996 - cell.com
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

O Zhuchenko, J Bailey, P Bonnen, T Ashizawa… - Nature …, 1997 - nature.com
A polymorphic CAG repeat was identified in the human α1A voltage-dependent calcium
channel subunit. To test the hypothesis that expansion of this CAG repeat could be the …

[BOOK][B] Ion channels and disease

FM Ashcroft - 1999 - books.google.com
Ion channels are membrane proteins that act as gated pathways for the movement of ions
across cell membranes. They play essential roles in the physiology of all cells. In recent …

A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

AMJM van den Maagdenberg, D Pietrobon… - Neuron, 2004 - cell.com
Migraine is a common, disabling, multifactorial, episodic neurovascular disorder of unknown
etiology. Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine …

Clinical spectrum of CADASIL: a study of 7 families

H Chabriat, K Vahedi, MG Bousser, MT Iba-Zizen… - The Lancet, 1995 - Elsevier
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is an inherited arterial disease of the brain recently …

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

A Ducros, C Denier, A Joutel, M Cecillon… - … England Journal of …, 2001 - Mass Medical Soc
Background Familial hemiplegic migraine, an autosomal dominant disorder characterized
by attacks of transient hemiparesis followed by a migraine headache, is divided into pure …

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

MB Russell, A Ducros - The Lancet Neurology, 2011 - thelancet.com
Hemiplegic migraine is a rare form of migraine with aura that involves motor aura
(weakness). This type of migraine can occur as a sporadic or a familial disorder. Familial …

Increased familial risk and evidence of genetic factor in migraine

MB Russell, J Olesen - Bmj, 1995 - bmj.com
Objective: To investigate familial occurrence of migraine with and without aura. Design:
Familial occurrence of migraine with and without aura among first degree relatives and …