Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
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DOI: 10.1111/cge.13926
Abstract: A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole‐exome sequencing. A heterozygous amino‐acid substitution p.L519R in a PHACTR1 gene was identified.… read more here.
Keywords: infantile spasms; phactr1; epilepsy infantile; multifocal epilepsy ... See more keywords