Abstract
A syndrome of nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment, is described in a family of 9 affected members in three generations reported from Austin Hospital, Heidelberg (Melbourne), the University of Melbourne, and the Royal Children’s Hospital, Melbourne, Australia.
Highlights
A syndrome of nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment, is described in a family of 9 affected members in three generations reported from Austin Hospital, Heidelberg (Melbourne), the University of Melbourne, and the Royal Children's Hospital, Melbourne, Australia
Clinical anticipation was noted across the three generations of affected individuals, with increasingly severe speech dyspraxia, epilepsy as well as cognitive impairment
The syndrome has features resembling benign rolandic epilepsy (BRE) and may help in identifying the gene for BRE which is unassociated with clinical anticipation
Summary
A syndrome of nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment, is described in a family of 9 affected members in three generations reported from Austin Hospital, Heidelberg (Melbourne), the University of Melbourne, and the Royal Children's Hospital, Melbourne, Australia. Clinical anticipation was noted across the three generations of affected individuals, with increasingly severe speech dyspraxia, epilepsy as well as cognitive impairment. It differs from the syndromes of Landau-Kleffner and epilepsy with continuous spike and wave during slow-wave sleep.
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