Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Renal cysts and diabetes (RCAD)
Renal hypomagnesemia 6
TRPM7

References:

1.

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

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2.

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

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3.

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

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4.

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.

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

Isaacs H et al. (1961) A SYNDROME OF CONTINUOUS MUSCLE-FIBRE ACTIVITY.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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Update: Sept. 26, 2018