Epilepsy Flashcards
What is Panayiotopoulos syndrome
Early onset benign focal epilepsy with occipital paroxysms. Peak age of onset 5 years. Typical seizures consists predominantly of autonomic symptoms, more often arise from sleep, and tend to be prolonged. The interictal EEGs shows multifocal, occipital a predominant, Spike – and slow waves accentuated by sleep
Autosomal dominant nocturnal frontal lobe epilepsy is associated with what mutations
Nicotinic acetylcholine receptors : CHRNA4 CHRNB2 CHRNA2
Nicotine treatment seems to reduce seizure frequency in these patients
What is Lennox -Gastaut syndrome
The Triad includes (1) multiple seizure types, to include tonic, atomic, myoclonic and atypical absence (2) inter octal EEG showing generalized 1.5 to 2.5 Hz slow spike and wave complexes on slow background (3) cognitive dysfunction
What nonpharmacological therapies are considered for treating intractable seizures of Lennox- Gastaut
Ketogenic diet, vagal nerve stimulator, corpus callosotomy
What is Jeavons syndrome
Absence epilepsy with eyelid myoclonia
What is Landau-kleffner syndrome and the related electrical status epilepticus of sleep ESES
Normal initial development, followed by a period of regression with language are more global regression. associated seizures typically predate the onset of regression.seizures typically have onset from the temporal region and usually manifests as nocturnal hemiclonic seizures
What adjunctive treatments are used in Landau-kleffner syndrome to treat diffuse electrical status pattern
Corticosteroids, high dose nocturnal benzodiazepines and IV IG. Aggressive treatment early in the course is required to prevent permanent language dysfunction
What is the mutation in Generalized epilepsy with febrile seizures (GEFS+)
It is an autosomal dominant epilepsy syndrome with approximately 60 to 70% penetrance. The most common genetic mutations are associated with this syndrome is in the sodium channel SCN1A which is also implicated in severe myoclonic epilepsy of infancy
What is Dravet syndrome
A severe infantile onset epilepsy syndrome with the distinctive but complex electro clinical presentation. A healthy developmentally normal present at around six months of age with convulsive status epilepticus which maybe hemi clonic or generalize seizures may be triggered by fever, illness or vaccination.
How do infantile spasms commonly present
Typically present in the 4 to 9 month old child often with proceeding developmental delay. In a seated position the child also usually have a head and neck atonia and lose postural controlHypsarrhythmia is often seen on EEG
What are common causes of infantile spasms
Birth related hypoxic – ischemic injury, cortical malformations, genetic and metabolic disorders, neurocutaneous syndrome especially tuberous sclerosis and congenital infections
How are infantile spasms generally treated
Steroid therapy ACTH or prednisone. Vigabatrin has been effective for spasms associated with tuberous sclerosis
What defects are associated with topiramate therapy during pregnancy
Small bar just stational age infants and a risk of oral clefts
