Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: (99)00135-0h.htm (shortcode: tab001mgu); 10 December
1999
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Genetics of the idiopathic epilepsies
Louise Bate and Mark Gardiner
|
Table 1. Genetics of the idiopathic epilepsies (tab001mgu) |
|||
|
Idiopathic
epilepsy |
Phenotype | Gene, chromosomal location (locus name) and gene product |
Refs |
| Benign
familial neonatal convulsions (BFNC) Autosomal dominant. |
Onset at 24 days old; remits at 215 weeks; GTCS with ocular signs and motor automatisms. |
(1) KCNQ2;
20q (EBN1); KCNQ2, a voltage-gated K+
ion channel. |
|
|
Generalised
epilepsy with febrile seizures plus (GEFS+) |
Childhood onset but remits by mid-childhood; phenotype includes: (1) febrile seizures plus, that is multiple febrile seizures with febrile or afebrile GTCS at >6 years old; (2) febrile seizures and absences, myoclonic seizures or atonic seizures and (3) myoclonic-astatic epilepsy. |
(1)
SCN1B; 19q13 (GEFS1); b1
subunit of voltage-gated Na+
ion channel. |
30
31 |
| Juvenile
myoclonic epilepsy (JME) Complex inheritance. |
Onset at 726 years of age; generalised myoclonic seizures with or without GTCS and absence seizures. |
(1)
?CHRNA7; 15q14; a7
subunit of nAChR. |
|
| Childhood
absence epilepsy
(and/or EEG
trait) (CAE) Complex inheritance. |
Onset at 312 years of age; generalised absences with or without GTCS; EEG characterised by 34-Hz spike-wave pattern. | Unknown; 8q24; unknown. | 87 |
| Autosomal
dominant nocturnal frontal lobe epilepsy (ADNFLE) Autosomal dominant. |
Childhood onset; persists in adulthood with brief clustered nocturnal motor partial seizures. |
(1)
(In minority only) CHRNA4;
20q13.2q13.3; a4 subunit of
nAChR.
|
|
| Partial epilepsy with auditory symptoms Autosomal dominant. |
Onset at 819 years of age; infrequent partial seizures with or without non-specific auditory disturbances. |
Unknown; 10q; unknown. | 88 |
| Benign
familial infantile convulsions (BFIC) Autosomal dominant. |
Onset at 3.512 months of age; partial motor seizures with secondary generalisation. |
Unknown; 19q13; unknown. | 89 |
|
Benign
rolandic epilepsy (also known as benign epilepsy with centrotemporal
spikes) |
Onset at 214 years of age; partial motor seizures with or without secondary generalisation; inter-ictal EEG characterised by centrotemporal spikes. |
Unknown; 15q14 (in the same region as one of the putative JME loci); unknown. | 49 |
| Abbreviations used: EEG = electroencephelogram; GTCS = generalised tonic-clonic seizures; Hz = Hertz; nAChR = neuronal nicotinic acetylcholine receptor. | |||
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