Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

doi:10.1002/ajmg.a.61803

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Article

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

American journal of medical genetics. Part A - 1 Nov 2020

Rizzi Susanna, Spagnoli Carlotta, Salerno Grazia Gabriella, Frattini Daniele, Caraffi Stefano Giuseppe, Trimarchi Gabriele, Moratti Claudio, Pascarella Rosario, Garavelli Livia, Fusco Carlo

Abstract excerpt

The CAMK2B gene encodes the β-subunit of calcium/calmodulin-dependent protein kinase II (CAMK2), an enzyme that has crucial roles in synaptic plasticity, especially in hippocampal and cerebellar neurons. Heterozygous variants in CAMK2B cause a rare neurodevelopmental disorder, with 40% of the reported cases sharing the same variant: c.416C>T, p.(P139L). This case report describes a 22-year-old patient with this...

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PMID: 32875707
DOI: 10.1002/ajmg.a.61803

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