Episodic ataxia type 1: A neuronal potassium channelopathy
نویسندگان
چکیده
منابع مشابه
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1. Episodic ataxia type 1 presents with brief episodes of cerebellar dysfunction and persistent neuromyotonia and is associated with an increased incidence of epilepsy. In myelinated peripheral nerve, K(v)1.1 is highly expressed in the juxtaparanodal axon, where ...
متن کاملEpisodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder affecting both central and peripheral nerve function, causing attacks of imbalance and uncontrolled movements. Genetic linkage studies have identified mutations in the gene encoding the voltage-gated delayed rectifier potassium channel Kv1.1 as underlying EA1. The EA1 mutations E325D and V408A, residing near the cytopla...
متن کاملEpisodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.
Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia. Some mutations are also associated with epilepsy. Although Kv1.1-containing potassium channels play important roles in neuronal excitability and neurotransmitter release, it is not known h...
متن کاملFamilial episodic ataxia type II.
The familial episodic ataxia type II is a rare, dominantly inherited disease characterized by episodes of ataxia of early onset, often with completely normal cerebellar function between attacks. We report a family with affected members who had features of episodic ataxia type II and cerebellar atrophy on MRI imaging. All the affected members were successfully treated with acetazolamide, a carbo...
متن کاملMutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing
Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures. Three ...
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ژورنال
عنوان ژورنال: Neurotherapeutics
سال: 2007
ISSN: 1933-7213,1878-7479
DOI: 10.1016/j.nurt.2007.01.010