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N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.
View Article and Find Full Text PDFCase report: Clinical and genetic characterization of a novel variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.
Front Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.
Clin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
View Article and Find Full Text PDF[Intracranial mesenchymal tumors with FET::CREB fusion: a clinicopathological analysis of six cases].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou450052, China.
To investigate the clinicopathological and molecular genetic characteristics of intracranial mesenchymal tumors with FET::CREB fusion transcript. The clinical and imaging data of 6 cases of intracranial mesenchymal tumors with FET::CREB fusion from December 2018 to December 2023 were collected at the First Affiliated Hospital of Zhengzhou University. Their histological features, immunophenotype and molecular characteristics were analyzed.
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
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