Myokymia 1 with hypomagnesemia

MedGen UID:: 864771
•Concept ID:: C4016334
•: Finding

Synonym:	MYOKYMIA 1 WITH HYPOMAGNESEMIA

OMIM®:	176260

Recent clinical studies

Diagnosis

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Bianchi F, Simoncini C, Brugnoni R, Ricci G, Siciliano G
Acta Myol 2020 Mar;39(1):36-39. Epub 2020 Mar 1 doi: 10.36185/2532-1900-007. PMID: 32607479 Free PMC Article

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Therapy

Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.

Bianchi F, Simoncini C, Brugnoni R, Ricci G, Siciliano G
Acta Myol 2020 Mar;39(1):36-39. Epub 2020 Mar 1 doi: 10.36185/2532-1900-007. PMID: 32607479 Free PMC Article

See all (1)

Clinical prediction guides

A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.

van der Wijst J, Konrad M, Verkaart SAJ, Tkaczyk M, Latta F, Altmüller J, Thiele H, Beck B, Schlingmann KP, de Baaij JHF
Nephron 2018;139(4):359-366. Epub 2018 May 23 doi: 10.1159/000488954. PMID: 29791908 Free PMC Article

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Myokymia 1 with hypomagnesemia

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

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