Less than 2: Epilepsies Exacerbated by Fever Flashcards
which epilepsies are exacerbated by fever
Dravet syndrome
Generalized epilepsy with febrile seizures plus
dravet syndrome clinical features
complex febrile seizures evolving into difficult to control epilepsies, exacerbated by anti seizure medications with sodium blocking MOA (carbamazepine, oxcarbazepine, phenytoin, or lamotrigine)
dravet syndrome first seizures
frequently febrile, prolonged, and can be generalized or focal clonic
dravet syndrome semiologies
febrile and non febrile seizures recur, sometimes as status epilepticus
generalized myoclonic seizures appear after 1 year of age
partial, complex seizures with secondary generalization may occur
dravet syndrome other
coincident with onset of myoclonic seizures are the slowing of development and the gradual appearance of ataxia and hyperreflexia
dravet syndrome diagnosis
based on phenotype - up to 80% of mutation on SCN1A (locus 2q24) with a negative effect on sodium channel function
genetic testing is helpful and may prevent further unnecessary EEGs
dravet syndrome management
avoid sodium channel drugs
good alternatives: levetiracetam (keppra), divalproex (valproate), topiramate, zonisamide, rufinamide, and ketogenic diet
cannabinoids have shown similar benefits
de novo mutations are rare - recommend genetic counseling
generalized epilepsy with febrile seizure plus clinical features
suspected in patients with family histories of generalized epilepsies and febrile seizures with different phenotypes
GEFS+ mutations
affect the sodium channel and GABAa receptor
SCN1A (locus 2q24), SCN1B (locus 19q13.1), and GABRG2 (locus 5q34)
GEFS+ diagnosis
based on phenotype, which is highly variable regarding manifestations, prognosis, and response to treatment
GEFS+ management
wide-spectrum antiseizure medications are recommended: valproate, lamotrigine, levetiracetam, zonisamide, topiramate, clobazam, and perampanel
