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http://dx.doi.org/10.1177/0009922810366736 | DOI Listing |
Epilepsy Behav
December 2024
Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of EPICARE European Reference Network for Rare and Complex Epilepsies, Université Paris Cité, Paris, France; Dravet Syndrome Alliance France, 3 Sent. Des Larris 45330, Le Malesherbois, France; Imagine Institute, Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Paris, France. Electronic address:
Epilepsy Behav
December 2024
Mayo Clinic, Department of Neurology, Divisions of Epilepsy and Child and Adolescent Neurology, 200 First Street SW, Rochester, MN 55905, United States.
Sci Rep
December 2024
Department of Pediatrics, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke City, Tochigi, 329-0498, Japan.
Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor and is expected to reduce seizure frequency not only for focal seizures and generalized tonic-clonic seizures (GTCS) but also for other seizure types. This study aimed to clarify the long-term therapeutic efficacy and tolerability of PER in patients with DEEs.
View Article and Find Full Text PDFEur J Paediatr Neurol
November 2024
School of Health and Wellbeing, University of Glasgow, Glasgow, United Kingdom; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, United Kingdom. Electronic address:
Background And Objectives: Dravet Syndrome is a severe developmental and epileptic encephalopathy with significant care needs for affected individuals and families. Our objective was to characterise the caregiver burden and therapeutic needs of families caring for an individual with Dravet Syndrome from child to adulthood, to examine age related differences in co-morbidities, and identify current gaps in health and social care.
Methods: Cross-sectional national survey conducted by the patient advocacy group Dravet Syndrome UK (DSUK) emailed to registered families caring for an individual with a confirmed diagnosis of Dravet syndrome.
Zhonghua Er Ke Za Zhi
November 2024
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
To summarize the clinical and genetic characteristics of mental retardation disorder (MRD) with TRIO gene variant in children. Case series study. The data of 9 children with TRIO gene variants were collected retrospectively from August 2019 to March 2024 in Department of Neurology, Beijing Children's Hospital, Capital Medical University and Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University.
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