# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!


Episodic ataxia type 1

Eam ataxia, episodic, with myokymiaAEMAemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxiaEAEpisodic ataxia with myokymia
Get Update

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 ...

Full PubMed Review articles matches at NCBI:
0 Free Review Articles 2 Review Articles

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.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

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 27, 2019

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: Feb 25, 2020

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 ...

Full PubMed Research articles matches at NCBI:
17 Free Research Articles 31 Research Articles