Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Jan Lotte, Thomas Bast, Peter Borusiak, Antonietta Coppola, J. Helen Cross, Petia Dimova, A. Fogarasi, Irene Graneß, Renzo Guerrini, Helle Hjalgrim, Reinhard Keimer, Christian M. Korff, Gerhard Kurlemann, Steffen Leiz, Michaela Linder-Lucht, Tobias Loddenkemper, Christine Makowski, Christian Mühe, Joost Nicolai, Marina NikanorovaSimona Pellacani, Sunny Philip, Susanne Ruf, Iván Sánchez Fernández, Kurt Schlachter, Pasquale Striano, Biayna Sukhudyan, Deyana Valcheva, R. Jeroen Vermeulen, Tanja Weisbrod, Bernd Wilken, Philipp Wolf, Gerhard Kluger

Research output: Article

18 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)106-110
Number of pages5
JournalSeizure
Volume35
DOIs
Publication statusPublished - febr. 1 2016

Fingerprint

Anticonvulsants
Mutation
Epilepsy
Seizures
Bromides
Pharmaceutical Preparations
Therapeutics
Myoclonic Epilepsy
Spontaneous Remission
Intellectual Disability
Multicenter Studies
Retrospective Studies
clobazam

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Lotte, J., Bast, T., Borusiak, P., Coppola, A., Cross, J. H., Dimova, P., ... Kluger, G. (2016). Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure, 35, 106-110. https://doi.org/10.1016/j.seizure.2016.01.006

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. / Lotte, Jan; Bast, Thomas; Borusiak, Peter; Coppola, Antonietta; Cross, J. Helen; Dimova, Petia; Fogarasi, A.; 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.

In: Seizure, Vol. 35, 01.02.2016, p. 106-110.

Research output: Article

Lotte, J, Bast, T, Borusiak, P, Coppola, A, Cross, JH, Dimova, P, Fogarasi, A, Graneß, I, Guerrini, R, Hjalgrim, H, Keimer, R, Korff, CM, Kurlemann, G, Leiz, S, Linder-Lucht, M, Loddenkemper, T, Makowski, C, Mühe, C, Nicolai, J, Nikanorova, M, Pellacani, S, Philip, S, Ruf, S, Sánchez Fernández, I, Schlachter, K, Striano, P, Sukhudyan, B, Valcheva, D, Vermeulen, RJ, Weisbrod, T, Wilken, B, Wolf, P & Kluger, G 2016, 'Effectiveness of antiepileptic therapy in patients with PCDH19 mutations', Seizure, vol. 35, pp. 106-110. https://doi.org/10.1016/j.seizure.2016.01.006
Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure. 2016 febr. 1;35:106-110. https://doi.org/10.1016/j.seizure.2016.01.006
Lotte, Jan ; Bast, Thomas ; Borusiak, Peter ; Coppola, Antonietta ; Cross, J. Helen ; Dimova, Petia ; Fogarasi, A. ; 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. / Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. In: Seizure. 2016 ; Vol. 35. pp. 106-110.
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abstract = "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.",
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AU - Lotte, Jan

AU - Bast, Thomas

AU - Borusiak, Peter

AU - Coppola, Antonietta

AU - Cross, J. Helen

AU - Dimova, Petia

AU - Fogarasi, A.

AU - Graneß, Irene

AU - Guerrini, Renzo

AU - Hjalgrim, Helle

AU - Keimer, Reinhard

AU - Korff, Christian M.

AU - Kurlemann, Gerhard

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, Sunny

AU - Ruf, Susanne

AU - Sánchez Fernández, Iván

AU - Schlachter, Kurt

AU - Striano, Pasquale

AU - Sukhudyan, Biayna

AU - Valcheva, Deyana

AU - Vermeulen, R. Jeroen

AU - Weisbrod, Tanja

AU - Wilken, Bernd

AU - Wolf, Philipp

AU - Kluger, Gerhard

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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.

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