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Episodic ataxia type 1

EAEpisodic ataxia with myokymiaEam ataxia, episodic, with myokymiaAEMAemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Episodic ataxia type 1" returned 0 free, full-text review articles. First 0 results:
Episodic ataxia type 1: a neuronal potassium channelopathy.
Last Updated: Nov 13, 2018

Episodic ataxia type 1 is a paroxysmal neurological disorder characterized by short-lived attacks of recurrent midline cerebellar dysfunction and continuous motor activity. Mutations in KCN1A, the gene encoding Kv1.1, a voltage-gated neuronal potassium channel, are associated with ...

Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
Last Updated: Feb 16, 2018

Episodic ataxia (EA) is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia. Family members have a similar clinical syndrome; however, the syndrome ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Episodic ataxia type 1" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Episodic ataxia type 1" returned 17 free, full-text research articles. First few results:
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.
Last Updated: Nov 13, 2018

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 ...

Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca2.1 (P/Q-Type) Calcium Channels.
Last Updated: Jun 01, 2018

Voltage-gated Ca2.1 channels comprise a pore-forming α subunit with auxiliary αδ and β subunits. Ca2.1 channels play an essential role in regulating synaptic signaling. Mutations in the human gene encoding the Ca2.1 subunit are associated with the cerebellar disease episodic ataxia ...

The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.
Last Updated: Nov 13, 2018

Voltage-gated potassium (Kv) channels are essential for setting neuronal membrane excitability. Mutations in human Kv1.1 channels are linked to episodic ataxia type 1 (EA1). The EA1-associated mutation I262T was identified from a patient with atypical phenotypes. Although a previous ...

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