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

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 fra...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2018-10, Vol.40 (9), p.813-818
Main Authors: Shimada, Shino, Oguni, Hirokazu, Otani, Yui, Nishikawa, Aiko, Ito, Susumu, Eto, Kaoru, Nakazawa, Tomoyuki, Yamamoto-Shimojima, Keiko, Takanashi, Jun-ichi, Nagata, Satoru, Yamamoto, Toshiyuki
Format: Article
Language:English
Subjects:
Brain - diagnostic imaging
Child, Preschool
Developmental Disabilities - diagnostic imaging
Developmental Disabilities - genetics
Developmental Disabilities - physiopathology
Drug Resistant Epilepsy - diagnostic imaging
Drug Resistant Epilepsy - genetics
Drug Resistant Epilepsy - physiopathology
Frameshift Mutation
Hemiplegia - diagnostic imaging
Hemiplegia - genetics
Hemiplegia - physiopathology
Heterogeneous-Nuclear Ribonucleoprotein U - genetics
Humans
Hypoplasia of the corpus callosum
Intellectual disability
Male
Neurodevelopment
Phenotype
Seizures - diagnostic imaging
Seizures - genetics
Seizures - physiopathology
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Summary: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.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2018.05.010