IDENTIFICATION OF 2 NEW KCNA1 MUTATIONS IN EPISODIC ATAXIA MYOKYMIA FAMILIES

[1] EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1 [J]. NATURE GENETICS, 1994, 8 (02) : 136 - 140

[2] FAMILIAL PAROXYSMAL KINESIGENIC ATAXIA AND CONTINUOUS MYOKYMIA [J]. BRAIN, 1990, 113 : 1361 - 1382

[3] Gancher S T, 1986, Mov Disord, V1, P239, DOI 10.1002/mds.870010404

[4] CONTRACTURES, CONTINUOUS MUSCLE DISCHARGES, AND TITUBATION [J]. ANNALS OF NEUROLOGY, 1977, 1 (02) : 120 - 124

[5] Kramer P. L., 1994, American Journal of Human Genetics, V55, pA191

[6] FAMILIAL INTERMITTENT ATAXIA WITH POSSIBLE X-LINKED RECESSIVE INHERITANCE - 2 PATIENTS WITH ABNORMAL PYRUVATE METABOLISM AND A RESPONSE TO ACETAZOLAMIDE [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1984, 64 (01) : 89 - 97

[7] LUBBERS WJ, 1995, IN PRESS J NEUROL NE

[8] MOLECULAR-BIOLOGY OF VOLTAGE-DEPENDENT POTASSIUM CHANNELS [J]. PHYSIOLOGICAL REVIEWS, 1992, 72 (04) : S69 - S88

[9] SALAM M, 1975, HDB CLIN NEUROLOGY, V211, P573

[10] ANTIBODIES SPECIFIC FOR DISTINCT KV SUBUNITS UNVEIL A HETEROOLIGOMERIC BASIS FOR SUBTYPES OF ALPHA-DENDROTOXIN-SENSITIVE K+ CHANNELS IN BOVINE BRAIN [J]. BIOCHEMISTRY, 1994, 33 (07) : 1617 - 1623

[1] EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1 [J]. NATURE GENETICS, 1994, 8 (02) : 136 - 140

[2] FAMILIAL PAROXYSMAL KINESIGENIC ATAXIA AND CONTINUOUS MYOKYMIA [J]. BRAIN, 1990, 113 : 1361 - 1382

[3] Gancher S T, 1986, Mov Disord, V1, P239, DOI 10.1002/mds.870010404

[4] CONTRACTURES, CONTINUOUS MUSCLE DISCHARGES, AND TITUBATION [J]. ANNALS OF NEUROLOGY, 1977, 1 (02) : 120 - 124

[5] Kramer P. L., 1994, American Journal of Human Genetics, V55, pA191

[6] FAMILIAL INTERMITTENT ATAXIA WITH POSSIBLE X-LINKED RECESSIVE INHERITANCE - 2 PATIENTS WITH ABNORMAL PYRUVATE METABOLISM AND A RESPONSE TO ACETAZOLAMIDE [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1984, 64 (01) : 89 - 97

[7] LUBBERS WJ, 1995, IN PRESS J NEUROL NE

[8] MOLECULAR-BIOLOGY OF VOLTAGE-DEPENDENT POTASSIUM CHANNELS [J]. PHYSIOLOGICAL REVIEWS, 1992, 72 (04) : S69 - S88

[9] SALAM M, 1975, HDB CLIN NEUROLOGY, V211, P573

[10] ANTIBODIES SPECIFIC FOR DISTINCT KV SUBUNITS UNVEIL A HETEROOLIGOMERIC BASIS FOR SUBTYPES OF ALPHA-DENDROTOXIN-SENSITIVE K+ CHANNELS IN BOVINE BRAIN [J]. BIOCHEMISTRY, 1994, 33 (07) : 1617 - 1623