Abstract
Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE.
| Original language | English |
|---|---|
| Pages (from-to) | 127-133 |
| Number of pages | 7 |
| Journal | Epilepsy Research |
| Volume | 56 |
| Issue number | 2-3 |
| DOIs | |
| Publication status | Published - Oct 2003 |
Fingerprint
Keywords
- GABRG2
- GEFS+
- Myoclonic astatic epilepsy
- SCN1A
- SCN1B
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Neurology
Cite this
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. / Nabbout, R.; Kozlovski, A.; Gennaro, E.; Bahi-Buisson, N.; Zara, F.; Chiron, C.; Bianchi, A.; Brice, A.; Leguern, E.; Dulac, O.
In: Epilepsy Research, Vol. 56, No. 2-3, 10.2003, p. 127-133.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy
AU - Nabbout, R.
AU - Kozlovski, A.
AU - Gennaro, E.
AU - Bahi-Buisson, N.
AU - Zara, F.
AU - Chiron, C.
AU - Bianchi, A.
AU - Brice, A.
AU - Leguern, E.
AU - Dulac, O.
PY - 2003/10
Y1 - 2003/10
N2 - Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE.
AB - Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE.
KW - GABRG2
KW - GEFS+
KW - Myoclonic astatic epilepsy
KW - SCN1A
KW - SCN1B
UR - http://www.scopus.com/inward/record.url?scp=10744220065&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10744220065&partnerID=8YFLogxK
U2 - 10.1016/j.eplepsyres.2003.08.007
DO - 10.1016/j.eplepsyres.2003.08.007
M3 - Article
C2 - 14642997
AN - SCOPUS:10744220065
VL - 56
SP - 127
EP - 133
JO - Epilepsy Research
JF - Epilepsy Research
SN - 0920-1211
IS - 2-3
ER -