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Epilepsy Board Study > Genetics and Epilepsy Syndromes > Flashcards

Genetics and Epilepsy Syndromes Flashcards

1
Q

Benign Familial Neonatal Seizures

A

KCNQ2, KCNQ3

M channel subunit of VGKC

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2
Q

Benign familial neonatal-infantile seiuzres

A

SCN2A

Sodium channel subunit

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3
Q

Otahara Syndrome

A

STXBP1

ARX

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4
Q

early onset spasms

A

CDKL5, TSC1/2

Xlinked

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5
Q

Xlinked Spasms

A

ARX (in boys)

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6
Q

GEFS+

A

SCN1A, SCN1B, GABRG2

Sodium channgel and GABAaR

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7
Q

Dravets sydnrome (or SMEI)

A

SCN1A

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8
Q

Childhood absence seizures + FS

A

GABRG2

AD, GABAaR subunit

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9
Q

Epilepsy and MR in females

A

PCDH19 - protoadherin

Xlinked

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10
Q

Early onset absence epilepsy

A

SLC2A1 -GLUT1 def (AD)

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11
Q

JME

A

GABRA1

EFHC1 - EF hand motif protein

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12
Q

Autosomal Dominant nocturnal frontal lobe epilespy (ADNFLE)

A

CHRNA4, CHRNA2, CHRNB2

nicotinic AchR subunits

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13
Q

AD Parital epilepsy with Auditory features (ADPEAF)

A

LGI1
AD
Aka ADLTLE

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14
Q

Myoclonic epilepsy with ragged red fibers (MERRF)

A 
mitochondrial DNA (tRNA) 
Best dx with muscle biopsy
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15
Q

Unverricht-lundborg

A

EPM1 (CSTB, cystatin B

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16
Q

Lafora Disease

A

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

17
Q

Neuronal ceroid lipofuscinosis (NCL)

A

CLN1-8

PPT

18
Q

Sialidosis

A

NEU
AR
Dx: increase urinary oligosaccharides

19
Q

Dentatorubral-pallidoluysian atrophy (DRPLA)

A

ATN1
trinucleotide repeat d/o
AD

20
Q

Lissencephaly

A

LIS1

AD

21
Q

Xlinked lissencephaly, double cortex syndrome, subcoritcal band heterotopia

A

DCX
Xlinked
Male`

22
Q

Periventricular nodular heterotopia (PNH)

A

FLNA - X linked domin

ARFGEF2 - AR > PNH + microcephaly

23
Q

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

A

mito DNA

Seizures > metabolic > structural

24
Q

Alpers syndrome

A

POLG1
AR
intractble seizures, developemtnal arrest, liver dysfunction

25
Q

Tuberous sclerosis

A

TSC1/2, AD, variable penetrance

26
Q

Fragile X

A

FMR1 - AD

trinucleotide repeat d/o

27
Q

Retts syndrome

A

MECP2

X linked

28
Q

Trisomy 21

A

Classical cytogenetics

Epilepsy in 12% with IS, LGS

29
Q

Angelmans Syndrome

A

DNA methylation UBE3A

Epilepsy Board Study (8 decks)

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