Two Novel Pediatric Cases of EIF4A2 -Related Disorder With Refractory Infantile Spasms.

Abstract excerpt

With the rapid adoption and increasing use of genetic testing in pediatric neurology, the discovery and characterization of novel pathogenic variants resulting in neurodevelopmental and seizure disorders are becoming more common. One such disorder is EIF4A2-related neurodevelopmental disorder, a recently described disorder with various clinical associations, including developmental delay, epilepsy, and structural...

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