Hereditary myokymia type 1 is an autosomal dominant disorder characterized by spntaneous contractions of muscle fibers and hypomagnesemia.
| 1. |
Herson PS et al. (2003) A mouse model of episodic ataxia type-1.
|
| 2. |
Hanson PA et al. (1977) Contractures, continuous muscle discharges, and titubation.
|
| 3. |
Litt M et al. (1994) A gene for episodic ataxia/myokymia maps to chromosome 12p13.
|
| 4. |
Lubbers WJ et al. (1995) Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.
|
| 5. |
Ashizawa T et al. (1983) A dominantly inherited syndrome with continuous motor neuron discharges.
|
| 6. |
McGuire SA et al. (1984) Hereditary continuous muscle fiber activity.
|
| 7. |
Mertens HG et al. (1965) [Neuromyotonia].
|
| 8. |
Gancher ST et al. (1986) Autosomal dominant episodic ataxia: a heterogeneous syndrome.
|
| 9. |
Brunt ER et al. (1990) Familial paroxysmal kinesigenic ataxia and continuous myokymia.
|
| 10. |
None (1961) A SYNDROME OF CONTINUOUS MUSCLE-FIBRE ACTIVITY.
|
| 11. |
Graves TD et al. (2010) Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
|
| 12. |
Jen JC et al. (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
| 13. |
Vaamonde J et al. (1991) Hereditary paroxysmal ataxia with neuromyotonia.
|
| 14. |
VanDyke DH et al. (1975) Hereditary myokymia and periodic ataxia.
|
| 15. |
Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
|
| 16. |
Browne DL et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
|
| 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.
|
| 18. |
Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
|
| 19. |
Eunson LH et al. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
|
| 20. |
OMIM.ORG article Omim 160120
|