A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation

Article Biochemistry & Molecular Biology

De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality

Masamune Sakamoto et al.

Summary: Two ARF3 gene variants, the possibly loss-of-function p.Asp67Val and the gain-of-function p.Arg99Leu, both impair the Golgi transport system, leading to different clinical presentations such as diffuse brain atrophy (p.Asp67Val) and cerebellar hypoplasia (p.Arg99Leu).

HUMAN MOLECULAR GENETICS (2022)

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Article Clinical Neurology

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Nicola Specchio et al.

Summary: The 2017 International League Against Epilepsy classification defines a three-tier system for epilepsy syndromes, with childhood onset epilepsy syndromes falling into three categories: self-limited focal epilepsies, generalized epilepsies, and developmental and/or epileptic encephalopathies. Identification of specific syndromes helps guide management and prognosis. This paper describes these childhood onset epilepsy syndromes, highlighting their seizure types, EEG features, phenotypic variations, and key investigation findings.

EPILEPSIA (2022)

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Article Genetics & Heredity

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

Sachiko Ohori et al.

Summary: Whole-exome sequencing (WES) can detect single-nucleotide variants and pathogenic copy-number variations in causal genes, but may overlook pathogenic variations in out-of-target genome regions. To address this limitation, whole-genome sequencing (WGS) was employed to identify a 97-kb heterozygous deletion involving MBD5 in an undiagnosed patient. Additionally, rare structural variations were found in the patient, demonstrating the utility of long-read WGS in investigating potentially pathogenic SVs.

JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses

Yuri Uchiyama et al.

Summary: This study optimized the detection of rare pathogenic CNVs using exome sequencing data by implementing batch-based analysis, sex-specific analysis, and filtering steps, leading to an improved performance in identifying clinically relevant CNVs, especially in patients with epilepsy.

HUMAN MUTATION (2021)

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Article Genetics & Heredity