Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

De novo somatic variants in genes encoding components of the PI3K–AKT3–mTOR pathway, including MTOR, have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition presents with developmental delay and intractable epilepsy...

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Bibliographic Details
Published in:	Diagnostics (Basel)
Main Authors:	Szczałuba, Krzysztof, Rydzanicz, Małgorzata, Walczak, Anna, Kosińska, Joanna, Koppolu, Agnieszka, Biernacka, Anna, Iwanicka-Pronicka, Katarzyna, Grajkowska, Wiesława, Jurkiewicz, Elżbieta, Kowalczyk, Paweł, Płoski, Rafał
Format:	Artigo
Language:	Inglês
Published:	MDPI 2021
Subjects:	Case Report
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC8303645/ https://ncbi.nlm.nih.gov/pubmed/34359351 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11071269
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Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

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