Abstract
Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought: to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.
| Original language | English |
|---|---|
| Pages (from-to) | 1552-1557 |
| Number of pages | 6 |
| Journal | American Journal of Human Genetics |
| Volume | 66 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 2000 |
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- Genetics
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Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. / Zara, Federico; Gennaro, Elena; Stabile, Mariano; Carbone, Ilaria; Malacarne, Michela; Majello, Luigi; Santangelo, Roberto; Antonio De Falco, Fabrizio; Bricarelli, Franca Dagna.
In: American Journal of Human Genetics, Vol. 66, No. 5, 2000, p. 1552-1557.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13
AU - Zara, Federico
AU - Gennaro, Elena
AU - Stabile, Mariano
AU - Carbone, Ilaria
AU - Malacarne, Michela
AU - Majello, Luigi
AU - Santangelo, Roberto
AU - Antonio De Falco, Fabrizio
AU - Bricarelli, Franca Dagna
PY - 2000
Y1 - 2000
N2 - Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought: to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.
AB - Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought: to play an important role, to date very little is known about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.
UR - http://www.scopus.com/inward/record.url?scp=0033926823&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033926823&partnerID=8YFLogxK
U2 - 10.1086/302876
DO - 10.1086/302876
M3 - Article
C2 - 10741954
AN - SCOPUS:0033926823
VL - 66
SP - 1552
EP - 1557
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 5
ER -