Genes and epilepsy Flashcards
Genes and Epilepsy
KCNQ2
K channel (responsible for M current; which prevents excessive firing) - Benign familial neonatal seizures
KCNQ3
K channel (responsible for M current; which prevents excessive firing) - Benign familial neonatal seizures
SCN1A
alpha1 subunit - Na channel - Epilepsy with febrile seizures plus (EFS+) - Dravet syndrome; Severe myoclonic epilepsy of infancy and related syndromes; Hemiplegic migraine
SCN2A
alpha2 subunit Na channel Epilepsy with febrile seizures plus (EFS+) - Benign familial neonatal infantile seizures; Severe myoclonic epilepsy of infancy and related syndromes
SCN1B
beta1 subunit - Na channel - Epilepsy with febrile seizures plus (EFS+); Severe myoclonic epilepsy of infancy and related syndromes
SCN9A
alpha9 subunit Na channel - Epilepsy with febrile seizures plus (EFS+)
GABRD
GABA a receptor 2 subunit - Epilepsy with febrile seizures plus (EFS+)
GABRG2
GABA a receptor _2 subunit - Epilepsy with febrile seizures plus (EFS+); Childhood absence epilepsy
GABRA1
GABA a receptor 1 subunit - Childhood absence epilepsy; Juvenile myoclonic epilepsy
ATP1A2
ATP - familial hemiplegic migraine with benign infantile seizures; Hemiplegic migraines
GL13
Palister Hall syndrome (hamartomas and polydactily)
EJM1
JME
EJM2
JME
CHRNA4
nicotinic acetylcholine receptor (nAChR) 4-subunit protein - ADNFLE
CHRNB2
nAChR _2-subunit protein - ADNFLE
CHRNA2
nAChR 4-subunit protein - ADNFLE
LGI1
protein called leucine-rich glioma inactivated 1 (Lgi1) or epitempin - Familial lateral temporal lobe epilepsy
Six susceptibility foci (FEB 1 2 3 4 5 6)
Febrile seizures
ARX
Aristaless-related homeobox - transcription factor related with brain development - Ohtahara and West syndrome
CDKL5
Serine threonine kinase involved in brain development. Associated with dendritic spine structure - Ohtahara and West syndrome
STXBP1
Involved in fusion of secretory vesicles to the presynaptic membrane - Ohtahara and West syndrome
LCB1 PCDH19 KCTD7 BCKDK SYN1 GRIN2B GRIN2A TNK2 KCNQ2 PTEN
Early onset epilepsies associated with autism
PRRT2
Proline-rich transmembrane protein - Infantile convulsions with paroxysmal kinesigenic dyskinesia
TBC1D24
Protein that regulates endo- and exocytosis - Familial infantile myoclonic epilepsy (FIME)