Article
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Neurosciences (Riyadh, Saudi Arabia) - 1 Jul 2023
Alyamani Suad A, Aldhalaan Hesham M, Almuhaizea Mohammed A, Abukhalid Musaad F
Abstract excerpt
OBJECTIVES: To describe the complex phenotype of ATP1A3 and second to report new mutation of ATP1A3. METHODS: This is a retrospective chart review of 7 patients who was diagnosed with ATP1A3 mutation based on whole exome sequencing (WES) result and the following information were collected; age, age of onset, developmental ability, seizure type, family history, MRI, WES report. The data collection started a year...
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