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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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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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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.

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18.

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

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19.

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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20.

OMIM.ORG article

Omim 160120 external link
Update: Aug. 14, 2020
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