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

EJM2

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
DEPC5
Protein in the neuron soma with unknown function - Familial focal epilepsy with variable foci
26
LIS1
platelet activating factor acetohydrolase - Lissencephaly
27
X-linked DCX
doublecortin - Lissencephaly
28
TUBA1A
tubulin - Lissencephaly and polymivrogyria
29
TUBA2B
tubulin - Lissencephaly and polymivrogyria
30
CACNA1A
Ca channel - IGE; Hemiplegic migraine
31
CACNAB4
Ca channel - IGE; JME
32
CACNA1H
Ca channel- JME; CAE
33
CLCN2
Cl channel - CAE; Epilepsy with tonic clonic seizures (on awakening)
34
P13-KT signaling pathway
Multiple components of the growth factor receptor cascade - Megalencephaly and hemimegalencephaly
35
UBE3A
Ubequitin ligase 3A - Angelman Sd
36
TSC1
Hamartin Tuberous Sclerosis
37
TSC2
Tuberin Tuberous Sclerosis
38
SLC2A1
Glut1 protein Glut1 disease
39
GLDC
Glycine dehydrogenase Glycine encephalopathy (the majority of the cases)
40
GCST or AMT
Amonitransferase unit Glycine encephalopathy (about 20% of cases)
41
GCSH
Glycine cleavage system protein H Glycine encephalopathy (less than 1%)