Gene Mutations

Question 1

Autosomal dominant lateral temporal lobe epilepsy or temporal lobe epilepsy with auditory features
ADLTLE

Answer 1

LGI1 in 50%

Question 2

Autosomal dominant nocturnal frontal lobe epilepsy

ADNFLE

Answer 2

CHRN2A, 2B, 4A

Question 3

Ohtahara syndrome/early infantile epileptic encephalopathy

Answer 3

STKBP1, ARX ( x linked recessive boys lissencephaly), KCNQ2

Question 4

West syndrome

Answer 4

STK9, CDKL5, ARX

Question 5

GLUT 1 deficiency

Answer 5

SLCA1

70-80%
Csf/blood glucose ratio <0.45
Phb and VPA

Question 6

Benign familial neonatal epilepsy/seizures
BFNE

Inherited as

Answer 6

KCNQ2, KCNQ3

AD

Question 7

Hemimegancephaly

Answer 7

Somatic mutation (mosaicism)

Question 8

Dravet, severe myoclonic epilepsy of infancy

Answer 8

SCN1A

If negative in a girl check PCDH19

Question 9

GEFS+

5

Answer 9

SCN1A
SCN1B
SCN2A
GABRG2
GABRD

Question 10

JME

Answer 10

GABRA1

Question 11

Absence with ataxia

Answer 11

CACN1A

Question 12

Infantile epileptic encephalopathy

Epilepsy limited to females MR

Answer 12

PCDH19
Sodium
Fever

Question 13

FHM 1,2,3

Answer 13

CACNA1A

ATP1A2

SCN1A

Question 14

Familial cavernous malformation

Answer 14

KRIT1

Question 15

NF 1 & 2

Answer 15

Chromosome 17, 22

Question 16

Tuberous sclerosis

Answer 16

9 hamartin

16 tuberin

Question 17

Rett syndrome

Answer 17

CDKL5

MECP2
XLinked
Lethal in males

Question 18

Pyridoxine dependent or folate epilepsy

Answer 18

ALDH7A1
Antiquitin deficiency

Elevates in pipecolic acid in CSF serum and urine
Elevated alpha aminoadipoc semialdehyde in blood and urine

Can improve within 24 hrs

Question 19

Migrating partial seizures of infancy

Answer 19

KCNT1

Question 20

Sturgeon Weber

Answer 20

GNAQ

Question 21

PME that’s AD

Answer 21

Adult onset NCL or Kuf’s sz

Question 22

PME- ULD

Answer 22

EPM1

Question 23

ULD

Answer 23

Cystatin b

Question 24

Lafora body

Answer 24

EPM 2A or2B

Question 25

Sialodosis

Answer 25

NEU1 neuraminadase

AR

Question 26

PVNH

Answer 26

FLNA

Question 27

Hyperplexia

Answer 27

GLRA1 GLRB

Glycine

Question 28

PNH

Answer 28

Filamin xq28