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Author

A. Gil-Nagel

2 papers indexed here

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Open access Oct 2026

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study.

OBJECTIVE This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. METHODS In this modified two-round electronic Delphi consensus study, international experts rated candidate statements using a 9-point Likert s...

A. Sánchez-Feliciano, William D. James, Mark P. Fitzgerald et al. · 0 citations
Review Sep 2026

Seizures in SRRM2-related disorder and treatment response.

BACKGROUND Loss-of-function variants in SRRM2, encoding the spliceosomal protein SRm300 involved in pre-messenger RNA splicing, have recently been associated with a neurodevelopmental disorder. Although seizures have been reported in some affected individuals, the electroclinical phenotype of SRRM2-related epilepsy has...

Daniel Fouz-Ruiz, Á. Beltrán-Corbellini, B. D. de Vries et al. · 0 citations

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