Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

Seizure : the Journal of the British Epilepsy Association
Jan LotteGerhard Kluger

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 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. 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 ...Continue Reading

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Citations

Jun 9, 2016·Epilepsia·Miriam H MeislerIngrid E Scheffer
Jul 18, 2016·Pharmacology, Biochemistry, and Behavior·Doodipala Samba Reddy
Apr 30, 2017·Practical Neurology·Shane LyonsDaniel Costello
Mar 9, 2019·Archives of Toxicology·Aeri Park, Hyun Chul Koh
Nov 13, 2019·Brain and Behavior·Li YangBaomin Li
May 3, 2020·International Journal of Molecular Sciences·Ramon Cacabelos
Jul 16, 2019·Brain : a Journal of Neurology·Joseph D SymondsMargaret Wilson
Oct 25, 2017·Developmental Medicine and Child Neurology·Mary KurianThomas Bast
Jan 30, 2018·Epilepsia·Lacey SmithAnnapurna Poduri
Mar 24, 2017·Epilepsy Currents·Annapurna Poduri
Feb 2, 2021·Frontiers in Neurology·Celina von StülpnagelUNKNOWN NETRE Consortium
Feb 15, 2020·Pediatric Neurology·Debopam Samanta
Jan 14, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Lynette G SadleirIngrid E Scheffer
Jul 3, 2021·Journal of Clinical Medicine·Rossella BorghiClaudia Compagnucci
Jul 19, 2020·Seizure : the Journal of the British Epilepsy Association·Ángel Aledo-SerranoAntonio Gil-Nagel

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