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Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29.

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Author information

1
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
2
Department of Pediatrics, Toshima Hospital, Tokyo, Japan.
3
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
4
Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan.
5
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.

Abstract

Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling. He also showed an episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy. Unique and variable clinical features are related to loss-of-function or haploinsufficiency of HNRNPU.

KEYWORDS:

Hypoplasia of the corpus callosum; Intellectual disability; Neurodevelopment

PMID:
29858110
DOI:
10.1016/j.braindev.2018.05.010
[Indexed for MEDLINE]

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