Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hereditary myokymia type 1

Hereditary myokymia type 1 is an autosomal dominant disorder characterized by spntaneous contractions of muscle fibers and hypomagnesemia.

Systematic

Hypomagnesemia
EGFR
Gitelman syndrome
Hereditary myokymia type 1
KCNA1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
Hypomagnesemia with normocalciuria
Intestinal hypomagnesemia with secondary hypocalcemia
Isolated dominant hypomagnesemia
PPI-induced Hypomagnesemia
Renal cysts and diabetes (RCAD)
Renal hypomagnesemia 6
TRPM7

References:

1.

Herson PS et al. (2003) A mouse model of episodic ataxia type-1.

external link
2.

Hanson PA et al. (1977) Contractures, continuous muscle discharges, and titubation.

external link
3.

Litt M et al. (1994) A gene for episodic ataxia/myokymia maps to chromosome 12p13.

external link
4.

Lubbers WJ et al. (1995) Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

external link
5.

Ashizawa T et al. (1983) A dominantly inherited syndrome with continuous motor neuron discharges.

external link
6.

McGuire SA et al. (1984) Hereditary continuous muscle fiber activity.

external link
7.

Mertens HG et al. (1965) [Neuromyotonia].

external link
8.

Gancher ST et al. (1986) Autosomal dominant episodic ataxia: a heterogeneous syndrome.

external link
9.

Brunt ER et al. (1990) Familial paroxysmal kinesigenic ataxia and continuous myokymia.

external link
10.

None (1961) A SYNDROME OF CONTINUOUS MUSCLE-FIBRE ACTIVITY.

external link
11.

Graves TD et al. (2010) Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

external link
12.

Jen JC et al. (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment.

external link
13.

Vaamonde J et al. (1991) Hereditary paroxysmal ataxia with neuromyotonia.

external link
14.

VanDyke DH et al. (1975) Hereditary myokymia and periodic ataxia.

external link
15.

Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).

external link
16.

Browne DL et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

external link
17.

Glaudemans B et al. (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

external link
18.

Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

external link
19.

Eunson LH et al. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

external link
20.

OMIM.ORG article

Omim 160120 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits