Episodic Ataxias: Faux or Real?
CACNA1A
FGF14
KCNA1
PRRT2
SCN2A
SLC1A3
SLCA1
channelopathies
episodic ataxia
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
05 Sep 2020
05 Sep 2020
Historique:
received:
03
08
2020
revised:
31
08
2020
accepted:
01
09
2020
entrez:
9
9
2020
pubmed:
10
9
2020
medline:
25
2
2021
Statut:
epublish
Résumé
The term Episodic Ataxias (EA) was originally used for a few autosomal dominant diseases, characterized by attacks of cerebellar dysfunction of variable duration and frequency, often accompanied by other ictal and interictal signs. The original group subsequently grew to include other very rare EAs, frequently reported in single families, for some of which no responsible gene was found. The clinical spectrum of these diseases has been enormously amplified over time. In addition, episodes of ataxia have been described as phenotypic variants in the context of several different disorders. The whole group is somewhat confused, since a strong evidence linking the mutation to a given phenotype has not always been established. In this review we will collect and examine all instances of ataxia episodes reported so far, emphasizing those for which the pathophysiology and the clinical spectrum is best defined.
Identifiants
pubmed: 32899446
pii: ijms21186472
doi: 10.3390/ijms21186472
pmc: PMC7555854
pii:
doi:
Substances chimiques
Calcium Channels
0
Excitatory Amino Acid Transporter 1
0
Ion Channels
0
NAV1.2 Voltage-Gated Sodium Channel
0
Kv1.1 Potassium Channel
147173-20-4
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
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