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Anya’s Rite > Genes and epilepsy > Flashcards

Genes and epilepsy Flashcards

Genes and Epilepsy

1
Q

KCNQ2

A

K channel (responsible for M current; which prevents excessive firing) - Benign familial neonatal seizures

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2
Q

KCNQ3

A

K channel (responsible for M current; which prevents excessive firing) - Benign familial neonatal seizures

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3
Q

SCN1A

A

alpha1 subunit - Na channel - Epilepsy with febrile seizures plus (EFS+) - Dravet syndrome; Severe myoclonic epilepsy of infancy and related syndromes; Hemiplegic migraine

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4
Q

SCN2A

A

alpha2 subunit Na channel Epilepsy with febrile seizures plus (EFS+) - Benign familial neonatal infantile seizures; Severe myoclonic epilepsy of infancy and related syndromes

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5
Q

SCN1B

A

beta1 subunit - Na channel - Epilepsy with febrile seizures plus (EFS+); Severe myoclonic epilepsy of infancy and related syndromes

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6
Q

SCN9A

A

alpha9 subunit Na channel - Epilepsy with febrile seizures plus (EFS+)

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7
Q

GABRD

A

GABA a receptor 2 subunit - Epilepsy with febrile seizures plus (EFS+)

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8
Q

GABRG2

A

GABA a receptor _2 subunit - Epilepsy with febrile seizures plus (EFS+); Childhood absence epilepsy

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9
Q

GABRA1

A

GABA a receptor 1 subunit - Childhood absence epilepsy; Juvenile myoclonic epilepsy

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10
Q

ATP1A2

A

ATP - familial hemiplegic migraine with benign infantile seizures; Hemiplegic migraines

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11
Q

GL13

A

Palister Hall syndrome (hamartomas and polydactily)

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12
Q

EJM1

A

JME

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13
Q

What epilepsy disorder is associated with this gene mutation? EJM2 gene

A

JME

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14
Q

CHRNA4

A

nicotinic acetylcholine receptor (nAChR) 4-subunit protein - ADNFLE

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15
Q

CHRNB2

A

nAChR _2-subunit protein - ADNFLE

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16
Q

CHRNA2

A

nAChR 4-subunit protein - ADNFLE

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17
Q

LGI1

A

protein called leucine-rich glioma inactivated 1 (Lgi1) or epitempin - Familial lateral temporal lobe epilepsy

18
Q

Six susceptibility foci (FEB 1 2 3 4 5 6)

A

Febrile seizures

19
Q

ARX

A

Aristaless-related homeobox - transcription factor related with brain development - Ohtahara and West syndrome

20
Q

CDKL5

A

Serine threonine kinase involved in brain development. Associated with dendritic spine structure - Ohtahara and West syndrome

21
Q

STXBP1

A

Involved in fusion of secretory vesicles to the presynaptic membrane - Ohtahara and West syndrome

22
Q

LCB1 PCDH19 KCTD7 BCKDK SYN1 GRIN2B GRIN2A TNK2 KCNQ2 PTEN

A

Early onset epilepsies associated with autism

23
Q

PRRT2

A

Proline-rich transmembrane protein - Infantile convulsions with paroxysmal kinesigenic dyskinesia

24
Q

TBC1D24

A

Protein that regulates endo- and exocytosis - Familial infantile myoclonic epilepsy (FIME)

25
Q

DEPC5

A

Protein in the neuron soma with unknown function - Familial focal epilepsy with variable foci

26
Q

LIS1

A

platelet activating factor acetohydrolase - Lissencephaly

27
Q

X-linked DCX

A

doublecortin - Lissencephaly

28
Q

TUBA1A

A

tubulin - Lissencephaly and polymivrogyria

29
Q

TUBA2B

A

tubulin - Lissencephaly and polymivrogyria

30
Q

CACNA1A

A

Ca channel - IGE; Hemiplegic migraine

31
Q

CACNAB4

A

Ca channel - IGE; JME

32
Q

CACNA1H

A

Ca channel- JME; CAE

33
Q

CLCN2

A

Cl channel - CAE; Epilepsy with tonic clonic seizures (on awakening)

34
Q

P13-KT signaling pathway

A

Multiple components of the growth factor receptor cascade - Megalencephaly and hemimegalencephaly

35
Q

UBE3A

A

Ubequitin ligase 3A - Angelman Sd

36
Q

TSC1

A

Hamartin

Tuberous Sclerosis

37
Q

TSC2

A

Tuberin

Tuberous Sclerosis

38
Q

SLC2A1

A

Glut1 protein

Glut1 disease

39
Q

GLDC

A

Glycine dehydrogenase

Glycine encephalopathy (the majority of the cases)

40
Q

GCST or AMT

A

Amonitransferase unit

Glycine encephalopathy (about 20% of cases)

41
Q

GCSH

A

Glycine cleavage system protein H

Glycine encephalopathy (less than 1%)

Anya’s Rite (34 decks)

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