A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) is a rare disease caused by mutations in the X chromosomal PIGA gene. Clinically it is characterized by early-onset epilepsy, hypotonia, dysmorphic features, and variable congenital anomalies. PIGA codes for the phosphatidylinosito...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109435/
https://ncbi.nlm.nih.gov/pubmed/32256299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505797
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