Genes and epilepsy

Question 1

KCNQ2

Answer 1

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

Question 2

KCNQ3

Answer 2

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

Question 3

SCN1A

Answer 3

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

Question 4

SCN2A

Answer 4

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

Question 5

SCN1B

Answer 5

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

Question 6

SCN9A

Answer 6

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

Question 7

GABRD

Answer 7

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

Question 8

GABRG2

Answer 8

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

Question 9

GABRA1

Answer 9

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

Question 10

ATP1A2

Answer 10

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

Question 11

GL13

Answer 11

Palister Hall syndrome (hamartomas and polydactily)

Question 12

EJM1

Answer 12

JME

Question 13

EJM2

Answer 13

JME

Question 14

CHRNA4

Answer 14

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

Question 15

CHRNB2

Answer 15

nAChR _2-subunit protein - ADNFLE

Question 16

CHRNA2

Answer 16

nAChR 4-subunit protein - ADNFLE

Question 17

LGI1

Answer 17

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

Question 18

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

Answer 18

Febrile seizures

Question 19

ARX

Answer 19

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

Question 20

CDKL5

Answer 20

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

Question 21

STXBP1

Answer 21

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

Question 22

LCB1 PCDH19 KCTD7 BCKDK SYN1 GRIN2B GRIN2A TNK2 KCNQ2 PTEN

Answer 22

Early onset epilepsies associated with autism

Question 23

PRRT2

Answer 23

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

Question 24

TBC1D24

Answer 24

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

Question 25

DEPC5

Answer 25

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

Question 26

LIS1

Answer 26

platelet activating factor acetohydrolase - Lissencephaly

Question 27

X-linked DCX

Answer 27

doublecortin - Lissencephaly

Question 28

TUBA1A

Answer 28

tubulin - Lissencephaly and polymivrogyria

Question 29

TUBA2B

Answer 29

tubulin - Lissencephaly and polymivrogyria

Question 30

CACNA1A

Answer 30

Ca channel - IGE; Hemiplegic migraine

Question 31

CACNAB4

Answer 31

Ca channel - IGE; JME

Question 32

CACNA1H

Answer 32

Ca channel- JME; CAE

Question 33

CLCN2

Answer 33

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

Question 34

P13-KT signaling pathway

Answer 34

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

Question 35

UBE3A

Answer 35

Ubequitin ligase 3A - Angelman Sd

Question 36

TSC1

Answer 36

Hamartin Tuberous Sclerosis

Question 37

TSC2

Answer 37

Tuberin Tuberous Sclerosis

Question 38

SLC2A1

Answer 38

Glut1 protein Glut1 disease

Question 39

GLDC

Answer 39

Glycine dehydrogenase Glycine encephalopathy (the majority of the cases)

Question 40

GCST or AMT

Answer 40

Amonitransferase unit Glycine encephalopathy (about 20% of cases)

Question 41

GCSH

Answer 41

Glycine cleavage system protein H Glycine encephalopathy (less than 1%)