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

Authors: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: TAOK1, Periventricular nodular heterotopia, PVNH, PNH, Neuronal migration disorders, Macrocephaly, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/5beec6055b924a6e98b954d1773212b0

A rare presentation of bilateral periventricular nodular heterotopia with intra-axial pontine Lesion: A case report and treatment approach

Authors: Milad Shenno, Almonzer Al-Qiami, Ismail A. Ibrahim, Lojin Elhaw, Abdulqadir J. Nashwan

Source: Interdisciplinary Neurosurgery, Vol 36, Iss , Pp 101894- (2024)

Subject Terms: Epilepsy, PVNH, Congenital anomaly, Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214751923001779; https://doaj.org/toc/2214-7519

Access URL: https://doaj.org/article/beeda656ef3643d58fa2af79904cf2af