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A sixth family with autosomal dominantly inherited myokymia and paroxysmal ataxia is described. The syndrome in this family is linked to the recently discovered locus for inherited myokymia and paroxysmal ataxia on the human chromosome 12p, and a missense mutation is shown in the KCNA1 gene. The attacks of ataxia in this family compare well with those of previously described families and similarly are precipitated by kinesigenic stimuli, exertion, and startle. Responsiveness of these attacks to low dose acetazolamide is confirmed, but some loss of efficacy occurs with prolonged treatment, and side effects are notable. Although not all affected family members showed myokymia on clinical examination, electromyography invariably showed myokymic discharges, in one patient only after a short provocation with regional ischaemia. One affected family member also had attacks of paroxysmal kinesigenic choreoathetosis, responsive to carbamazepine.
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
January 1987,
Movement disorders : official journal of the Movement Disorder Society,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
January 1996,
Neurophysiologie clinique = Clinical neurophysiology,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
April 1998,
Journal of Korean medical science,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
January 1983,
Revue neurologique,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
December 1978,
Neurology,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
January 1993,
Acta neurologica Belgica,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
February 1995,
Human molecular genetics,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
May 1975,
Journal of the neurological sciences,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
November 2012,
Seminars in neurology,
W J Lubbers, and
E R Brunt, and
H Scheffer, and
M Litt, and
R Stulp, and
D L Browne, and
T W van Weerden
October 1990,
Brain : a journal of neurology,
