Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Normokalemic Periodic Paralysis
Synonyms
Definitions

An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.
ID

http://purl.obolibrary.org/obo/NCIT_C122791
code

C122791
definition

An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium.
label

Normokalemic Periodic Paralysis
Preferred_Name

Normokalemic Periodic Paralysis
prefixIRI

NCIT:C122791
prefLabel

Normokalemic Periodic Paralysis
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0268445
subClassOf

http://purl.obolibrary.org/obo/NCIT_C122787
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