Molecular Screening of SCN1A ‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.70114
Abstract: SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of… read more here.
Keywords: scn1a related; febrile seizures; related seizures; diagnostic yield ... See more keywords
A Single-center Analysis of Three Japanese Patients with Mahjong-related Seizures
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine"
DOI: 10.2169/internalmedicine.9798-22
Abstract: Mahjong is one of the most popular Chinese tile games played in Japan. Mahjong-related seizures (MRS) are rare praxis-induced seizures. We identified three patients with MRS from February 2000 to February 2021. All cases were… read more here.
Keywords: single center; related seizures; three japanese; analysis three ... See more keywords