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Diversity in Clinical and Neurophysiological Manifestations of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome) in Pediatric Population

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Iran J Child Neurol. 2025 Sep 15;19(4):23-32. doi: 10.22037/ijcn.v19i4.46185. eCollection 2025 Fall. ABSTRACT OBJECTIVES: Epilepsy with eyelid myoclonia (EEM), with or without absence, also known as Jeavons Syndrome (JS), is a unique epileptic syndrome. This syndrome...

Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Pediatr. 2025 Oct 24;13:1651524. doi: 10.3389/fped.2025.1651524. eCollection 2025. ABSTRACT BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of multi-systemic genetic disorders. Over 100 monogenic human diseases were known related with defects...

Latent profile analysis of perceived vulnerability among parents of children with febrile seizures

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Pediatr. 2025 Oct 23;13:1657584. doi: 10.3389/fped.2025.1657584. eCollection 2025. ABSTRACT BACKGROUND: Certain parents of children with febrile seizures have a high sense of perceived vulnerability, which may lead to overprotective behaviors. This study aimed...

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Genet. 2025 Oct 24;16:1670299. doi: 10.3389/fgene.2025.1670299. eCollection 2025. ABSTRACT Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe type I ALD...

Vagus nerve stimulation for spike-and-wave activation in sleep in a pediatric patient: a case report

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Neurosci. 2025 Oct 23;19:1675783. doi: 10.3389/fnins.2025.1675783. eCollection 2025. ABSTRACT BACKGROUND: Evidence regarding the efficacy of vagus nerve stimulation (VNS) in treating developmental and epileptic encephalopathy/ epileptic encephalopathy with...

Preserved ictal responsiveness in right mesial temporal lobe epilepsy: metabolic correlates in posterior temporal networks with FDG-PET

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Neurol. 2025 Oct 23;16:1690510. doi: 10.3389/fneur.2025.1690510. eCollection 2025. ABSTRACT OBJECTIVE: Automatisms with preserved responsiveness (APR) represent a distinctive clinical feature in right mesial temporal lobe epilepsy (MTLE). This study aimed to...
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