Epilepsy Res
Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India. Electronic address:
Published: November 2020
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http://dx.doi.org/10.1016/j.eplepsyres.2020.106441 | DOI Listing |
Epilepsia
March 2025
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
Objective: For patients with infantile epileptic spasms syndrome (IESS) who have achieved remission of epileptic spasms (ES), indicators of how well the electroencephalographic (EEG) state should be maintained during follow-up are not available. We hypothesized that the time course of the Burden of Amplitudes and Epileptiform Discharges (BASED) score after ES remission is associated with ES relapse. This study aimed to investigate the association between ES relapse and BASED scores at the time of initial ES remission and during the subsequent follow-up period.
View Article and Find Full Text PDFInt J Mol Sci
February 2025
Department of Biomedical and Neuromotor Sciences, University of Bologna, Piazza di Porta San Donato 2, 40126 Bologna, Italy.
deficiency disorder (CDD), a developmental encephalopathy caused by mutations in the cyclin-dependent kinase-like 5 () gene, is characterized by a complex and severe clinical picture, including early-onset epilepsy and cognitive, motor, visual, and gastrointestinal disturbances. This disease still lacks a medical treatment to mitigate, or reverse, its course and improve the patient's quality of life. Although CDD is primarily a genetic brain disorder, some evidence indicates systemic abnormalities, such as the presence of a redox imbalance in the plasma and skin fibroblasts from CDD patients and in the cardiac myocytes of a mouse model of CDD.
View Article and Find Full Text PDFInt J Dev Neurosci
April 2025
Department of Orthopedics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.
Methods: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression.
Chin Med J (Engl)
March 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Background: The CUG-binding protein Elav-like family member 2 (CELF2) gene has been linked to the pathogenesis of epilepsy, but its precise role remains unclear. This study aimed to investigate the pathogenic mechanisms of CELF2 mutation in epilepsy, utilizing zebrafish models to explore its molecular pathways and biological impact.
Methods: Whole-exome sequencing was performed to identify CELF2 mutations associated with epilepsy.
Neurol Ther
March 2025
Senior Department of Paediatrics, The Seventh Medical Centre of PLA General Hospital, Beijing, 100000, China.
Introduction: The treatment of infantile epileptic spasms syndrome (IESS) aims to achieve spasm control. Current first-line interventions include hormone therapy (adrenocorticotropic hormone [ACTH] and corticosteroids) and vigabatrin. Despite treatment, the response rate remains at around 40%, with some infants experiencing relapse after achieving initial spasm control.
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