Concepedia

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

Shino Shimada, Hirokazu Oguni, Yui Otani, Aiko Nishikawa, Susumu Ito, Kaoru Eto, Tomoyuki Nakazawa, Keiko Yamamoto‐Shimojima, Jun‐ichi Takanashi, Satoru Nagata,

Brain and Development · 2018 · 17 citations · 10 references

DOI

Concepts

References

10

Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions.

Masashi Mizuguchi, Jiro Abe, K Mikkaichi et al. · Journal of Neurology Neurosurgery & Psychiatry · 1995 · 451 citations · Full text

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Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy

Jun‐ichi Takanashi, Hiroshi Oba, A. James Barkovich et al. · Neurology · 2006 · 240 citations

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Nuria C. Bramswig, Hermann‐Josef Lüdecke, Fadi F. Hamdan et al. · Human Genetics · 2017 · 92 citations · Full text

, , +9

Enhancement of NEIL1 Protein-initiated Oxidized DNA Base Excision Repair by Heterogeneous Nuclear Ribonucleoprotein U (hnRNP-U) via Direct Interaction

Muralidhar L. Hegde, Srijita Banerjee, Pavana M. Hegde et al. · Journal of Biological Chemistry · 2012 · 58 citations · Full text

De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

T. Michael Yates, Pradeep Vasudevan, Kate Chandler et al. · American Journal of Medical Genetics Part A · 2017 · 51 citations · Full text