Article

Dual effects of <i>ARX</i> poly-alanine mutations in human cortical and interneuron development

2024-01-25

Abstract excerpt

Infantile spasms, with an incidence of 1.6 to 4.5 per 10,000 live births, are a relentless and devastating childhood epilepsy marked by severe seizures but also leads to lifelong intellectual disability. Alarmingly, up to 5% of males with this condition carry a mutation in the Aristaless-related homeobox ( ARX ) gene. Our current lack of human-specific models for developmental epilepsy, coupled with discrepancie...

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Literature Corpus work: fafa4ef8-a3cb-5567-9145-08a12866ffb0
DOI: 10.1101/2024.01.25.577271

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