Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

doi:10.1016/j.seizure.2016.01.006

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Article

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

Seizure - 1 Feb 2016

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, Vermeulen R Jeroen, Weisbrod Tanja, Wilken Bernd, Wolf Philipp, Kluger Gerhard

Abstract excerpt

PURPOSE: 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. METHODS: We report a retrospective multicenter study of antiepileptic therapy in 58 female...

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Identifiers

PMID: 26820223
DOI: 10.1016/j.seizure.2016.01.006

Genes

PCDH19

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