Epilepsy Flashcards
What are two types of epilepsies that present within the 0-3 month range?
Ohtahara syndrome
Epilepsy of Infancy with Migrating Focal Seizures
What are genes associated with epilepsies that present within the 0-3 month range?
STXPB1, KCNQ2, SCN2A
KCNT1, SCN2A
What are two types of epilepsies that present within the 4 months - 2 year range?
West syndrome
Dravet syndrome
What are genes associated with epilepsies that present within the 4 months - 2 year range?
CDKL5, STXBP1, ARX, DNM1
SCN1A
What is the most common gene associated with Dravet syndrome?
SCN1A
What types of seizures are associated with Dravet syndrome?
Prolonged febrile/afebrile sz, focal (hemiclonic), regression
What are two types of epilepsies that present within the 1-8 year range?
Lennox-Gastaut syndrome
Myoclonic-atonic epilepsy/Doose syndrome
What are genes associated with epilepsies that present within the 1-8 year range?
CDKL5, DNM1
SLC2A1, SLC6A1
What are is the type of epilepsies that presents within the 2-10 year range?
Landau-Kleffner syndrome
What gene is associated with seizures that present at 2-10 years?
GRIN2A
What is the phenotype of Landau-Kleffner syndrome (GRIN2A)?
Acquired aphasia, previously normal devt, +/- seizures
Electrical status epilepticus during slow wave sleep
What are examples of ion channel epilepsy genes?
SCN1A, SCN2A, KCNQ2, CACNA1A
What are examples of synaptic transmission epilepsy genes?
DNM1, SNAP25, STXBP1, STX1B, SYNGAP1
What gene is associated with GLUT1 deficiency syndrome?
SLC2A1
What is the treatment of GLUT1 deficiency?
ketogenic diet
What is the 30/10 rule in epilepsy?
30% of epilepsy has a genetic cause
10% of explained epilepsy has a treatment change
What are the most common genes in childhood epilepsy?
SCN1A
KCNQ2
CDKL5
SCN2A
PCDH19
STXBP1
PRRT2
SLC2A1
What are the features of SCN1A GoF variants vs Lof?
GoF seizures onset within first 3 months of life
Treatment includes sodium channel blockers
