Premium
Concordance of Clinical Forms of Epilepsy in Families with Several Affected Members
Author(s) -
Amedeo Bianchi,
G. Avanzini,
B. Dalla Bernardina,
R. Canger,
C. A. Tassinari,
Federico Vigevano,
A. Tiezzi,
G. Buzzi,
Carla Fani,
C. Devermandois,
P. Zolo,
A. Antonelli,
S. Binelli,
Daniela Buti,
Maria Paola Canevini,
Anna Carullo,
C. Ciarmatori,
Giangennaro Coppola,
Patrizia D’Alessandro,
M. Defeo,
Stephen DiDonato,
C. Durisotti,
Cecilia Filati Roso,
Ada Francia,
C. A. Galimberti,
Renato Galli,
P Garofalo,
P. Rossi,
Cesare Iani,
Mai R,
M. Manfredi,
Nicola Margiotta,
R. Massetani,
Salvatore Mazza,
Oriano Mecarelli,
Antonia Parmeggiani,
Antonio Pascotto,
Stefano Ricci,
Raffaele Rocchi,
Graziella Romano,
A. Saltareli,
Margherita Santucci,
G Sideri,
Luigi Maria Specchio,
A Tártara,
Camillo Tiacci,
G. Vatti,
Piernanda Vigliano,
L. Volpi
Publication year - 1993
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1993.tb02096.x
Subject(s) - epilepsy , concordance , juvenile myoclonic epilepsy , proband , childhood absence epilepsy , generalized epilepsy , idiopathic generalized epilepsy , epilepsy syndromes , medicine , pediatrics , seizure types , family history , psychiatry , psychology , genetics , biology , mutation , gene
Summary: Evidence for genetic heterogeneity in epilepsy is strong. We evaluated the concordance of clinical forms in the same family in a series of families with several cases of idiopathic epilepsy, collected as part of the Study on the Genetics of Epilepsy of the Italian League against Epilepsy (LICE). The studied families had at least three members affected by an idiopathic form of epilepsy in one or more generations. Seventy‐four families (with a total of 296 affected members) have been analyzed; two families had cases with benign neonatal familial convulsions (BNFC); in 25% of the remaining families all members were affected by the same clinical form, 13.9% had a prevalent clinical form with only one affected member with a different seizure type, 36.1% had two clinical forms, and 25% had three forms of epilepsy in the same family. There are no clinical differences in the form of epilepsy between the families concordant for one clinical form and families with two or three clinical forms of idiopathic epilepsies. The distribution of the clinical form in the affected relatives in our families showed the higher concordance with the proband in febrile convulsions (FC, 70.8%) and in epilepsy with generalized tonic‐clonic seizures (EGTC, 63.0%). FC and EGTC were highly diffused in the affected relatives in the families with other forms of idiopathic epilepsy, above all in the more distantly related affected family members. In our families we observed a rare association between childhood absence epilepsy (CAE) and juvenile myoclonic epilepsy (JME). In every idiopathic form of epilepsy, there was a high concordance for the seizure phenotype in first‐degree affected relatives, whereas in more distantly related family members concordance was less evident and there was a tendency toward a different phenotypic expression.