Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

Abstract Background Thousand and one amino-acid kinase 1 (TAOK1) encodes the MAP3K protein kinase TAO1, which has recently been displayed to be essential for neuronal maturation and cortical differentiation during early brain development. Heterozygous variants in TAOK1 have been reported in children...

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Bibliographic Details
Main Authors: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Medical Genomics
Subjects:
TAOK1
Periventricular nodular heterotopia
PVNH
PNH
Neuronal migration disorders
Macrocephaly
Online Access:https://doi.org/10.1186/s12920-024-01840-8

Internet

https://doi.org/10.1186/s12920-024-01840-8

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