CareLit Fachartikel

A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2–16q12.1

Y.G Weber, M Jacob, G Weber, H Lerche · Aktuelle Neurologie · 2008 · Heft 09

Dokument
1041762
CareLit-ID
Jahr
2008
Publikation
PDF
nein
Metadaten
DOI
ja
zitierfähig

Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
Y.G Weber, M Jacob, G Weber, H Lerche
Ausgabe
Heft 09 / 2008
Seiten
–
Erschienen: 2008-09-02 00:00:00
ISSN
0302-4350

Zusammenfassung

Benign familial infantile seizures (BFIS) is a dominant idiopathic epilepsy with partial and secondary generalized seizures with age of onset between 3 and 12 months. Here we describe a four generation family with some characteristic features of BFIS in 8 affected members with an unusual clinical phenotype. Onset was consistently between 14 and 20 months of age with clusters of complex-partial or generalized tonic-clonic seizures and a high rate of febrile seizures, which have not been described for BFIS previously. All affected members showed multifocal interictal epileptiform discharges in the EEG. The known l…

Schlagworte

Seizures Aktuelle Neurologie