Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

Abstract:

:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but differed from that of Landau-Kleffner syndrome and of epilepsy with continuous spike and wave during slow-wave sleep. The electroclinical features of this new syndrome of autosomal dominant rolandic epilepsy resemble those of benign rolandic epilepsy, a common inherited epilepsy of childhood. This family shows clinical anticipation of the seizure disorder, the oral and speech dyspraxia, and cognitive dysfunction, suggesting that the genetic mechanism could be expansion of an unstable triplet repeat. Molecular studies on this syndrome, where the inheritance pattern is clear, could also be relevant to identifying a gene for benign rolandic epilepsy where anticipation does not occur and the mode of inheritance is uncertain.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Scheffer IE,Jones L,Pozzebon M,Howell RA,Saling MM,Berkovic SF

doi

10.1002/ana.410380412

subject

Has Abstract

pub_date

1995-10-01 00:00:00

pages

633-42

issue

4

eissn

0364-5134

issn

1531-8249

journal_volume

38

pub_type

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