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Epilepsy > Gene Mutations > Flashcards

Gene Mutations Flashcards

1
Q

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

A

LGI1 in 50%

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2
Q

Autosomal dominant nocturnal frontal lobe epilepsy

ADNFLE

A

CHRN2A, 2B, 4A

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3
Q

Ohtahara syndrome/early infantile epileptic encephalopathy

A

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

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4
Q

West syndrome

A

STK9, CDKL5, ARX

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5
Q

GLUT 1 deficiency

A

SLCA1

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

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6
Q

Benign familial neonatal epilepsy/seizures
BFNE

Inherited as

A

KCNQ2, KCNQ3

AD

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7
Q

Hemimegancephaly

A

Somatic mutation (mosaicism)

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8
Q

Dravet, severe myoclonic epilepsy of infancy

A

SCN1A

If negative in a girl check PCDH19

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9
Q

GEFS+

5

A 
SCN1A
SCN1B
SCN2A
GABRG2
GABRD
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10
Q

JME

A

GABRA1

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11
Q

Absence with ataxia

A

CACN1A

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12
Q

Infantile epileptic encephalopathy

Epilepsy limited to females MR

A

PCDH19
Sodium
Fever

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13
Q

FHM 1,2,3

A

CACNA1A

ATP1A2

SCN1A

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14
Q

Familial cavernous malformation

A

KRIT1

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15
Q

NF 1 & 2

A

Chromosome 17, 22

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16
Q

Tuberous sclerosis

A

9 hamartin

16 tuberin

17
Q

Rett syndrome

A

CDKL5

MECP2
XLinked
Lethal in males

18
Q

Pyridoxine dependent or folate epilepsy

A

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

19
Q

Migrating partial seizures of infancy

A

KCNT1

20
Q

Sturgeon Weber

A

GNAQ

21
Q

PME that’s AD

A

Adult onset NCL or Kuf’s sz

22
Q

PME- ULD

A

EPM1

23
Q

ULD

A

Cystatin b

24
Q

Lafora body

A

EPM 2A or2B

25
Q

Sialodosis

A

NEU1 neuraminadase

AR

26
Q

PVNH

A

FLNA

27
Q

Hyperplexia

A

GLRA1 GLRB

Glycine

28
Q

PNH

A

Filamin xq28

Epilepsy (1 decks)

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