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Title:

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

Document type:
Journal Article; Multicenter Study
Author(s):
Lotte, Jan; Bast, Thomas; Borusiak, Peter; Coppola, Antonietta; Cross, J Helen; Dimova, Petia; Fogarasi, Andras; Graneß, Irene; Guerrini, Renzo; Hjalgrim, Helle; Keimer, Reinhard; Korff, Christian M; Kurlemann, Gerhard; Leiz, Steffen; Linder-Lucht, Michaela; Loddenkemper, Tobias; Makowski, Christine; Mühe, Christian; Nicolai, Joost; Nikanorova, Marina; Pellacani, Simona; Philip, Sunny; Ruf, Susanne; Sánchez Fernández, Iván; Schlachter, Kurt; Striano, Pasquale; Sukhudyan, Biayna; Valcheva, Deyana...     »
Abstract:
PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations.We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years).The most effective drugs a...     »
Journal title abbreviation:
Seizure
Year:
2016
Journal volume:
35
Pages contribution:
106-10
Language:
eng
Fulltext / DOI:
doi:10.1016/j.seizure.2016.01.006
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/26820223
Print-ISSN:
1059-1311
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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