TY - JOUR
T1 - Effectiveness of antiepileptic therapy in patients with PCDH19 mutations
AU - Lotte, J.
AU - Bast, T.
AU - Borusiak, Peter
AU - Coppola, A.
AU - Cross, J. Helen
AU - Dimova, Petia
AU - Fogarasi, Andras
AU - Graneß, Irene
AU - Guerrini, Renzo
AU - Hjalgrim, Helle
AU - Keimer, R.
AU - Korff, Christian M.
AU - Kurlemann, G.
AU - Leiz, Steffen
AU - Linder-Lucht, Michaela
AU - Loddenkemper, Tobias
AU - Makowski, Christine
AU - Mühe, Christian
AU - Nicolai, Joost
AU - Nikanorova, Marina
AU - Pellacani, Simona
AU - Philip, S.
AU - Ruf, Susanne
AU - Sánchez Fernández, Iván
AU - Schlachter, Kurt
AU - Striano, Pasquale
AU - Sukhudyan, Biayna G.
AU - Valcheva, Deyana
AU - Vermeulen, R. Jeroen
AU - Weisbrod, Tanja
AU - Wilken, Bernd
AU - Wolf, Philipp
AU - Kluger, Gerhard
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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 patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years). Results The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.
AB - 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 patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years). Results The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.
KW - Antiepileptic drugs
KW - Epilepsy
KW - Long-term effectiveness
KW - PCDH19 mutation
KW - Treatment
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U2 - 10.1016/j.seizure.2016.01.006
DO - 10.1016/j.seizure.2016.01.006
M3 - Article
VL - 35
SP - 106
EP - 110
JO - Seizure : the journal of the British Epilepsy Association
JF - Seizure : the journal of the British Epilepsy Association
SN - 1059-1311
ER -