Publications by authors named "Shota Yoneno"
Article Synopsis
- Current research on febrile infection-related epilepsy syndrome (FIRES) focuses primarily on acute management, with limited evidence for chronic phase treatment.
- A 19-year-old woman with longstanding FIRES showed significant improvement in seizure control and respiratory stabilization after starting a ketogenic diet (KD) 15 years post-diagnosis.
- This case suggests that KD could be an effective treatment option for patients with FIRES in the chronic phase, similar to its benefits in the acute phase.
Heterozygous transmembrane protein 63A (TMEM63A) variants cause transient infantile hypomyelinating leukodystrophy-19, which features remarkable natural resolution of clinical and imaging findings during childhood. Previous reports have mainly described de novo variants lacking detailed familial cases. Herein, we describe the clinical course of familial cases with a TMEM63A variant.
View Article and Find Full Text PDFATP1A2 encodes a subunit of sodium/potassium-transporting adenosine triphosphatase (Na /K -ATPase). Heterozygous pathogenic variants of ATP1A2 cause familial hemiplegic migraine, alternating hemiplegia of childhood, and developmental and epileptic encephalopathy. Biallelic loss-of-function variants in ATP1A2 lead to fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, resulting in fetal death.
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