Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)

Abstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular cha...

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Bibliographic Details
Main Authors: Shinsuke Mizuno, Koji Yokoyama, Atsushi Yokoyama, Takayuki Nukata, Yuka Ikeda, Shigeto Hara
Format: Article
Language:English
Published: Wiley 2022-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
electroencephalography
MAGEL2
neurodevelopmental disorders
Schaaf‐Yang syndrome
Online Access:https://doi.org/10.1002/mgg3.1932

Internet

https://doi.org/10.1002/mgg3.1932

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