Lynette G Sadleir1, Kristy L Kolc2, Chontelle King3, Heather C Mefford4, Russell C Dale5, Jozef Gecz6, Ingrid E Scheffer7. 1. Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand. Electronic address: lynette.sadleir@otago.ac.nz. 2. Adelaide Medical School, The University of Adelaide, SA, Australia. 3. Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand. 4. Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA. 5. Kids Neuroscience Centre. Children's Hospital at Westmead, University of Sydney, Australia. 6. Adelaide Medical School, The University of Adelaide, SA, Australia; Robinson Research Institute, The University of Adelaide, SA, Australia; Healthy Mothers and Babies, South Australian Health and Medical Research Institute, SA, Australia. 7. Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, VIC, Australia; The Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Abstract
BACKGROUND: PCDH19 Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epileptic encephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. METHODS: Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-person patient interview and review of clinical records for cohort A, and by patient report for cohort B. RESULTS: Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months; while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. DISCUSSION: Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.
BACKGROUND:PCDH19Girls clustering epilepsy (GCE) has a phenotypic spectrum that includes developmental and epilepticencephalopathy. PCDH19-GCE presents with clusters of seizures in the first years of life. Although patients typically outgrow their seizures, many are left with intellectual disability. Here we retrospectively assess the effect of levetiracetam in two independent cohorts of females with PCDH19-GCE. METHODS: Cohort A was identified by searching our epilepsy genetics research database for girls with PCDH19-GCE who had trialled levetiracetam. Cohort B consisted of girls aged 2 years or older, including women, participating in an international online questionnaire. Information regarding seizure frequency and levetiracetam use was obtained by in-personpatient interview and review of clinical records for cohort A, and by patient report for cohort B. RESULTS: Cohort A consisted of 17 females, aged 3-37 years, who had a trial of levetiracetam at an average age of 10.7 years. 13/17 females became seizure free for >12 months; while 10/17 remained seizure free for >24 months. Cohort B comprised 62 females, aged 1.5-41 years. 26/62 became seizure free for >12 months, and 19/62 for >24 months on levetiracetam therapy. DISCUSSION: Levetiracetam was effective in two cohorts of females with PCDH19-GCE where 42% and 76% of females became seizure free for >12 months, respectively. Levetiracetam is an effective therapy for females with PCDH19-GCE and should be considered early in the management of the highly refractory clusters of seizures that characterise this genetic disease.
Authors: Juan A Moncayo; Maite N Vargas; Isabel Castillo; Pablo V Granda; Andrea M Duque; Jennifer M Argudo; Sakina Matcheswalla; Guillermo E Lopez Dominguez; Gustavo Monteros; Andres F Andrade; Diego Ojeda; Mario Yepez Journal: Cureus Date: 2022-07-22
Authors: Guilan Chen; Hang Zhou; Yan Lu; You Wang; Yingsi Li; Jiaxin Xue; Ken Cheng; Ruibin Huang; Jin Han Journal: Front Neurol Date: 2022-09-29 Impact factor: 4.086