Katarzyna Kotulska1, Elżbieta Jurkiewicz2, Dorota Domańska-Pakieła3, Wiesława Grajkowska4, Marek Mandera5, Julita Borkowska3, Sergiusz Jóźwiak3. 1. Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland; Department of Science, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: k.kotulska@ipczd.pl. 2. Department of Radiology, The Children's Memorial Health Institute, Warsaw, Poland. 3. Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland. 4. Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland. 5. Department of Paediatric Neurosurgery, Silesian Medical University, Katowice, Poland.
Abstract
BACKGROUND: Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3-5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier. AIMS: The aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSC patients. METHODS: A retrospective review of medical data of 421 TSC patients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study. Clinical and treatment data, EEG, MRI, and genetic analyses were assessed. RESULTS: Epilepsy was present in 366 (86.9%) patients. Twenty-one (5.7%) developed epilepsy as newborns. Mean follow-up was 44.86 (6-170) months. Six patients were seizure free and 15 had drug-resistant seizures at the end of follow-up. Mental retardation was found in 81% of patients. In 11 (52.4%) patients brain MRI revealed large malformations of cerebral cortex, meeting the criteria for focal cortical dysplasia (FCD). FCD was revealed in both TSC1 and TSC2 mutation cases. Other risk factors for neonatal epilepsy included: perinatal complications and congenital SEGAs. Presence of FCD was associated with more severe epilepsy and worse neuropsychological outcome. Epilepsy surgery resulted in improvement in seizure control. CONCLUSIONS: Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. Patients with FCD are at high risk of severe drug-resistant epilepsy and poor neuropsychological outcome. Early epilepsy surgery may be beneficial and should be considered in such cases.
BACKGROUND:Epilepsy affects up to 90% of TSCpatients and majority of them have seizure at the age of 3-5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier. AIMS: The aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSCpatients. METHODS: A retrospective review of medical data of 421 TSCpatients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study. Clinical and treatment data, EEG, MRI, and genetic analyses were assessed. RESULTS:Epilepsy was present in 366 (86.9%) patients. Twenty-one (5.7%) developed epilepsy as newborns. Mean follow-up was 44.86 (6-170) months. Six patients were seizure free and 15 had drug-resistant seizures at the end of follow-up. Mental retardation was found in 81% of patients. In 11 (52.4%) patients brain MRI revealed large malformations of cerebral cortex, meeting the criteria for focal cortical dysplasia (FCD). FCD was revealed in both TSC1 and TSC2 mutation cases. Other risk factors for neonatal epilepsy included: perinatal complications and congenital SEGAs. Presence of FCD was associated with more severe epilepsy and worse neuropsychological outcome. Epilepsy surgery resulted in improvement in seizure control. CONCLUSIONS: Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. Patients with FCD are at high risk of severe drug-resistant epilepsy and poor neuropsychological outcome. Early epilepsy surgery may be beneficial and should be considered in such cases.
Authors: Peter E Davis; Rajna Filip-Dhima; Georgios Sideridis; Jurriaan M Peters; Kit Sing Au; Hope Northrup; E Martina Bebin; Joyce Y Wu; Darcy Krueger; Mustafa Sahin Journal: Pediatrics Date: 2017-11-03 Impact factor: 7.124
Authors: Angelika Mühlebner; Anand M Iyer; Jackelien van Scheppingen; Jasper J Anink; Floor E Jansen; Tim J Veersema; Kees P Braun; Wim G M Spliet; Wim van Hecke; Figen Söylemezoğlu; Martha Feucht; Pavel Krsek; Josef Zamecnik; Christian G Bien; Tilman Polster; Roland Coras; Ingmar Blümcke; Eleonora Aronica Journal: J Neurodev Disord Date: 2016-04-01 Impact factor: 4.025
Authors: Jessie De Ridder; Mario Lavanga; Birgit Verhelle; Jan Vervisch; Katrien Lemmens; Katarzyna Kotulska; Romina Moavero; Paolo Curatolo; Bernhard Weschke; Kate Riney; Martha Feucht; Pavel Krsek; Rima Nabbout; Anna C Jansen; Konrad Wojdan; Dorota Domanska-Pakieła; Magdalena Kaczorowska-Frontczak; Christoph Hertzberg; Cyrille H Ferrier; Sharon Samueli; Barbora Benova; Eleonora Aronica; David J Kwiatkowski; Floor E Jansen; Sergiusz Jóźwiak; Sabine Van Huffel; Lieven Lagae Journal: Front Neurol Date: 2020-10-16 Impact factor: 4.003
Authors: Jacqueline A French; Martina Bebin; Marc A Dichter; Jerome Engel; Adam L Hartman; Sergiusz Jóźwiak; Pavel Klein; James McNamara; Roy Twyman; Paul Vespa Journal: Epilepsia Open Date: 2021-07-29