Generalised myoclonic epilepsy

Synonyms: JME, Janz syndrome
Material
Material:
EDTA blood
(1 ml)
Untersuchungsdauer
TAT:
3-6 weeks
Contact
Methode
Method:
NGS, S-SEQ, CNV
Overview

Generalised myoclonic epilepsy comprises a spectrum of epileptic disorders characterised by brief, shock-like muscle jerks of cortical origin accompanied by bilateral generalised EEG discharges. It includes genetic generalised epilepsies, most notably juvenile myoclonic epilepsy, as well as progressive myoclonus epilepsies and developmental and epileptic encephalopathies with prominent myoclonic seizures. Clinical presentation, age of onset and disease course vary according to the underlying condition, ranging from treatable non-progressive epilepsies to disorders associated with progressive neurological impairment.

For more information see .

Generalised myoclonic epilepsy
17 Gene(s)*
CERS1
CNTN2
CSTB
EPM2A
GABRA1
GABRD
GOSR2
KCNC1
KCNMA1
KCTD7
LMNB2
NHLRC1
PRDM8
PRICKLE2
SCARB2
SLC6A1
TBC1D24


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