Genetics and Epilepsy Syndromes

Question 1

Benign Familial Neonatal Seizures

Answer 1

KCNQ2, KCNQ3

M channel subunit of VGKC

Question 2

Benign familial neonatal-infantile seiuzres

Answer 2

SCN2A

Sodium channel subunit

Question 3

Otahara Syndrome

Answer 3

STXBP1

ARX

Question 4

early onset spasms

Answer 4

CDKL5, TSC1/2

Xlinked

Question 5

Xlinked Spasms

Answer 5

ARX (in boys)

Question 6

GEFS+

Answer 6

SCN1A, SCN1B, GABRG2

Sodium channgel and GABAaR

Question 7

Dravets sydnrome (or SMEI)

Answer 7

SCN1A

Question 8

Childhood absence seizures + FS

Answer 8

GABRG2

AD, GABAaR subunit

Question 9

Epilepsy and MR in females

Answer 9

PCDH19 - protoadherin

Xlinked

Question 10

Early onset absence epilepsy

Answer 10

SLC2A1 -GLUT1 def (AD)

Question 11

JME

Answer 11

GABRA1

EFHC1 - EF hand motif protein

Question 12

Autosomal Dominant nocturnal frontal lobe epilespy (ADNFLE)

Answer 12

CHRNA4, CHRNA2, CHRNB2

nicotinic AchR subunits

Question 13

AD Parital epilepsy with Auditory features (ADPEAF)

Answer 13

LGI1
AD
Aka ADLTLE

Question 14

Myoclonic epilepsy with ragged red fibers (MERRF)

Answer 14

mitochondrial DNA (tRNA) 
Best dx with muscle biopsy

Question 15

Unverricht-lundborg

Answer 15

EPM1 (CSTB, cystatin B

Question 16

Lafora Disease

Answer 16

EPM2A, NHLRC1, (EPM2B)
AR
Bx - lafora bodies

Question 17

Neuronal ceroid lipofuscinosis (NCL)

Answer 17

CLN1-8

PPT

Question 18

Sialidosis

Answer 18

NEU
AR
Dx: increase urinary oligosaccharides

Question 19

Dentatorubral-pallidoluysian atrophy (DRPLA)

Answer 19

ATN1
trinucleotide repeat d/o
AD

Question 20

Lissencephaly

Answer 20

LIS1

AD

Question 21

Xlinked lissencephaly, double cortex syndrome, subcoritcal band heterotopia

Answer 21

DCX
Xlinked
Male`

Question 22

Periventricular nodular heterotopia (PNH)

Answer 22

FLNA - X linked domin

ARFGEF2 - AR > PNH + microcephaly

Question 23

MELAS (mitochodrial encephalopathy, lactic acidosis, stroke like episodes)

Answer 23

mito DNA

Seizures > metabolic > structural

Question 24

Alpers syndrome

Answer 24

POLG1
AR
intractble seizures, developemtnal arrest, liver dysfunction

Question 25

Tuberous sclerosis

Answer 25

TSC1/2, AD, variable penetrance

Question 26

Fragile X

Answer 26

FMR1 - AD

trinucleotide repeat d/o

Question 27

Retts syndrome

Answer 27

MECP2

X linked

Question 28

Trisomy 21

Answer 28

Classical cytogenetics

Epilepsy in 12% with IS, LGS

Question 29

Angelmans Syndrome

Answer 29

DNA methylation UBE3A