juvenile myoclonic epilepsy type 1

(redirected from impulsive petit mal)

juvenile myoclonic epilepsy type 1

A subtype of idiopathic generalised epilepsy (OMIM:254770) characterised by afebrile seizures of adolescent onset and myoclonic jerks that occur while awake, which are triggered by sleep deprivation and fatigue.

Molecular pathology
Defects in EFHC1, which encodes an EF-hand-domain protein thought to enhance calcium influx through CACNA1E, cause juvenile myoclonic epilepsy type 1.
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References in periodicals archive ?
Fue descrita inicialmente por Herpin en 1867 y por Rabot en 1899 (Delgado-Escueta, Enrile-Bacsa 1984, Janz 1985); mientras que Janz y Christian en 1957, hacen la primera descripcion detallada del trastorno y la denominan "impulsive petit mal".
Epilepsy with impulsive petit mal (Juvenile Myoclonic Epilepsy).
Impulsive petit mal. Deutsche Zeitschrift fur Nervenheilkunde.