Publications by authors named "Shiena Watanabe"
Article Synopsis
- ST3GAL5 is a gene responsible for producing GM3 synthase, crucial for synthesizing GM3, a ganglioside involved in brain function; deficiencies in this enzyme lead to GM3 synthase deficiency (GM3SD).
- Two siblings with GM3SD were identified through whole-exome sequencing, revealing novel pathogenic variants and presenting symptoms like irritability, growth failure, developmental delays, and severe neurological issues.
- Diagnosing GM3SD outside the Amish population is uncommon and may require advanced genetic testing; while there’s no established treatment, deep brain stimulation shows promise for managing specific symptoms like involuntary movements.
Epileptic encephalopathy with electrical status epilepticus during sleep (ESES) is often refractory to medical treatment and leads to poor cognitive outcomes. Corpus callosotomy may be an effective treatment option for drug-resistant ESES with no focal etiology. We retrospectively identified three patients who underwent corpus callosotomy for drug-resistant ESES in our institution.
View Article and Find Full Text PDFPeroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two siblings with ACOX1 deficiency born to non-consanguineous Japanese parents. They showed mild global developmental delay from infancy and began to regress at 5 years 10 months and 5 years 6 months of age respectively.
View Article and Find Full Text PDF