The aim of this review is to focus on the nosological classification of neonatal "convulsions", to precise the underlying aetiologies and the prognosis, and to propose diagnostic and therapeutical approach. Seizures may be epileptic or not, they may be occasional, part of an epilepsy syndrome or associated to a metabolic disease. Electroencephalography plays a central role; it enables to confirm the epileptic nature of the ictal events, it allows to evaluate the prognosis and to guide the treatment decision, and sometimes may help in the etiological diagnosis. Work up should include cerebral imaging (MRI) completed by other exams according to the diagnostic hypothesis. It is essential to go as far as possible in the etiological work-up not to attribute convulsions to an occasional event as HIE in which criteria remain very strict, when convulsions could be due to genetic origin or to maternal pathology. Treatment decision should comprise different ways: treatment of the underlying cause, of the eventual associated pathologies, maintenance of vital functions and antiepileptic treatment. Phenobarbitone remains the first line drug in occasional seizures, and second line drugs for which further studies are needed both for immediate and long-term secondary effects. Besides occasional seizures epilepsy syndromes and metabolic diseases remain exceptional. Nevertheless recognition of these conditions allows to establish the prognosis and to start immediately with an appropriate and specific medication depending on the epilepsy syndrome and can contribute to a prenatal diagnosis. It is important to recognize the inborn errors of metabolism because emergency appropriate treatment is required. Prognosis which is generally bad is essentially related to the underlying aetiology and probably to the duration of the active period of seizures.
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http://dx.doi.org/10.1016/j.arcped.2007.05.004 | DOI Listing |
Pediatr Neurol
January 2025
Department of Neurosurgery, Sanbo Brain Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Epilepsy, Beijing, China; Center of Epilepsy, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China. Electronic address:
Background: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder, often complicated by epilepsy. Approximately 50% of patients with SWS with epilepsy develop drug-resistant seizures, leaving limited treatment options. Vagus nerve stimulation (VNS) is a known therapy for refractory epilepsy, modulating neural activity to reduce seizures.
View Article and Find Full Text PDFEpilepsy Res
January 2025
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
Objective: This study aimed to assess the long-term outcome and prognostic factors of vagus nerve stimulation (VNS) for drug-resistant epilepsy (DRE) using real-world data.
Method: We included 189 DRE patients who underwent VNS implantation between 2005 and 2018 at nine national hospitals in Korea. Seizure-frequency data obtained quarterly one year before and after surgery and annually up to four years after surgery were collected from medical records.
Epilepsy Res
January 2025
Institute of Neurobiology, School of Basic Medical Sciences, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China; Institute of Neuroscience, Translational Medicine Institute, Xi'an Jiaotong University Health Science Center, 76 West Yanta Road, Xi'an City 710061, China. Electronic address:
Mutations in methyl CpG binding protein 2 (MeCP2) are linked to Rett syndrome, in which epilepsy is one of the most well-described disorders. However, little is known about the specific role of MeCP2 during epileptogenesis. Our previous study has demonstrated that MeCP2 has a unique control on the development of mossy fiber sprouting (MFS) in the epileptic hippocampus.
View Article and Find Full Text PDFJ Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFJ Appl Genet
January 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar Avenue, Daneshjoo Blvd, Evin, Tehran, 1985713834, Iran.
Perrault syndrome (PS) is an extremely rare autosomal recessive condition characterized primarily by bilateral sensorineural hearing loss in both genders and primary or secondary ovarian failure in females. Neurological features such as cerebral ataxia, peripheral neuropathy, epilepsy, and intellectual disability are frequent manifestations of PS. To date, six genes have been reported to cause PS, and nearly 100 families have been identified worldwide with this syndrome.
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