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Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Epilepsia
December 2024
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
View Article and Find Full Text PDFAge-related semiology changes over time.
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.
Article Synopsis
- Understanding seizure semiology across different ages helps identify the origin of seizures in patients with epilepsy.
- In infants, recognizing seizures is difficult due to the immature brain, with common types including epileptic spasms and myoclonic seizures.
- As children grow into preschool and school ages, the types of seizures become more complex and resemble those seen in adults, showing better-defined lateralizing behaviors during focal seizures.
Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal.
Epilepsia Open
December 2024
Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early-onset epilepsy that often resists conventional pharmacological treatment. Ketogenic diet therapy (KDT) is the preferred approach to address the underlying metabolic anomaly. However, a subset of GLUT1DS patients presents resistance to KDT, with the causes remaining elusive.
View Article and Find Full Text PDFILAE neonatal seizure framework to aide in determining etiology.
Epileptic Disord
November 2024
Clinical Neuroscience, UCL GOS Institute of Child Health and Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Objective: To employ the neonatal seizure framework developed by the International League Against Epilepsy (ILAE) Neonatal Task force to assess its usefulness in determining the etiology of neonatal seizures.
Methods: The members of the ILAE Neonatal Task Force evaluated 157 seizures from 146 neonates to determine internal validity and associations between semiology and a specific etiology.
Results: Provoked neonatal electrographic and electroclinical seizures were due to multiple etiologies.
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].
Zhonghua Er Ke Za Zhi
August 2024
Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China.
To summarize the genotype and clinical phenotype of children with WWOX gene related developmental and epileptic encephalopathy (DEE). Case series studies. The clinical data of 12 children with WWOX gene related DEE who were admitted to the Neurological Department of Children's Medical Center, Peking University First Hospital from June 2019 to December 2023 were analyzed.
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