Generalized epilepsy w/ febrile seizures plus (GEFS+) mutations
SCN1A
SCN1B
SCN2A
GABRD
Progressive myoclonic epilepsies
Lafora body disease Unverricht-Lundborg syndrome Neuronal ceroid lipofuscinosis MERRF Sialidosis
Drugs that worsen absence epilepsy
Phenytoin
Lamotrigine
Carbamazepine
Gabapentin
West Syndrome
Clinical: Hypsarrhythmia, infantile spasms, developmental delay
Rx: ACTH
Aicardi Syndrome
Clinical: Infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum in females
Rx:
Doose Syndrome
Clinical: Pediatric myoclonic-astatic seizures, normal development
Dravet Syndrome
Clinical: Severe myoclonic epilepsy of infancy, developmental delay
Ohtahara Syndrome
Clnical: Early infantile epileptic encephalopathy, frequent seizures, developmental delay
Lennox-Gastaut Syndrome
Clinical: Multiple seizure types, developmental delay
Rx: Valproic acid
Landau-Kleffner Syndrome
Clinical: Acquired aphasia, seizures
Rx: Valproic acid
Unverricht-Lundborg disease (Baltic epilepsy)
- Progressive myoclonic epilepsy
- AR, EPM1 gene, chr 21, cystatin B
- Stimulus-sensitive myoclonus
Type I sialidosis
- Progressive myoclonic epilepsy
- AR, NEU1 gene, chr 6, alpha-neuraminidase
- Adult onset
Type II sialidosis
Progressive myoclonic epilepsy
- AR, NEU1 gene, chr 6, N-acetyl neuraminidase & B-galactosialidase
- Neonatal, young onset w/ coarse features
Lafora Body disease
- Progressive myoclonic epilepsy
- AR, EPM 2A gene, chr 6, laforin
- PAS + inclusion bodies
