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

Brain Tissue Low-Level Mosaicism for <i>MTOR</i> 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 <i>MTOR</i>, have been linked to hemimegalencephaly or focal cortical dysplasia. Similarly to other malformations of cortical development, this condition presents with developmental delay and i...

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Main Authors: Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Diagnostics
Subjects:
<i>MTOR</i>
mosaicism
hemimegalencephaly
metabolism
hypoglycemia
Smith–Kingsmore syndrome
Online Access:https://www.mdpi.com/2075-4418/11/7/1269

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