Pediatric Epilepsy

Question 1

Generalized epilepsy w/ febrile seizures plus (GEFS+) mutations

Answer 1

SCN1A
SCN1B
SCN2A
GABRD

Question 2

Progressive myoclonic epilepsies

Answer 2

Lafora body disease
Unverricht-Lundborg syndrome
Neuronal ceroid lipofuscinosis
MERRF
Sialidosis

Question 3

Drugs that worsen absence epilepsy

Answer 3

Phenytoin
Lamotrigine
Carbamazepine
Gabapentin

Question 4

West Syndrome

Answer 4

Clinical: Hypsarrhythmia, infantile spasms, developmental delay
Rx: ACTH

Question 5

Aicardi Syndrome

Answer 5

Clinical: Infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum in females
Rx:

Question 6

Doose Syndrome

Answer 6

Clinical: Pediatric myoclonic-astatic seizures, normal development

Question 7

Dravet Syndrome

Answer 7

Clinical: Severe myoclonic epilepsy of infancy, developmental delay

Question 8

Ohtahara Syndrome

Answer 8

Clnical: Early infantile epileptic encephalopathy, frequent seizures, developmental delay

Question 9

Lennox-Gastaut Syndrome

Answer 9

Clinical: Multiple seizure types, developmental delay
Rx: Valproic acid

Question 10

Landau-Kleffner Syndrome

Answer 10

Clinical: Acquired aphasia, seizures
Rx: Valproic acid

Question 11

Unverricht-Lundborg disease (Baltic epilepsy)

Answer 11

• Progressive myoclonic epilepsy
• AR, EPM1 gene, chr 21, cystatin B
• Stimulus-sensitive myoclonus

Question 12

Type I sialidosis

Answer 12

• Progressive myoclonic epilepsy
• AR, NEU1 gene, chr 6, alpha-neuraminidase
• Adult onset

Question 13

Type II sialidosis

Answer 13

Progressive myoclonic epilepsy

• AR, NEU1 gene, chr 6, N-acetyl neuraminidase & B-galactosialidase
• Neonatal, young onset w/ coarse features

Question 14

Lafora Body disease

Answer 14

• Progressive myoclonic epilepsy
• AR, EPM 2A gene, chr 6, laforin
• PAS + inclusion bodies