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1.

Familial normokalemic periodic paralysis

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. [from NCI]

MedGen UID:
78678
Concept ID:
C0268445
Disease or Syndrome
2.

Familial periodic paralysis

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. [from NCI]

MedGen UID:
18291
Concept ID:
C0030443
Disease or Syndrome

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