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

References

Page 1

	Year	Citations
Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions. Masashi Mizuguchi, Jiro Abe, K Mikkaichi, Journal of Neurology Neurosurgery & Psychiatry Symmetric Brain LesionsNeurological DisorderDiagnosisLiver DysfunctionBrain Lesion	1995	451
Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy Jun‐ichi Takanashi, Hiroshi Oba, A. James Barkovich, Neurology	2006	240
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability Nuria C. Bramswig, Hermann‐Josef Lüdecke, Fadi F. Hamdan, Human Genetics Mendelian DisorderNeurological DisorderEarly Onset EpilepsyGeneticsSevere Intellectual Disability	2017	92
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, Journal of Biological Chemistry	2012	58
De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome T. Michael Yates, Pradeep Vasudevan, Kate Chandler, American Journal of Medical Genetics Part A	2017	51
Clinical and molecular characterization of de novo loss of function variants in <i>HNRNPU</i> Magalie S. Leduc, Hsiao‐Tuan Chao, Chunjing Qu, American Journal of Medical Genetics Part A	2017	48
<i>MED13L</i> haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, American Journal of Medical Genetics Part A	2017	31
Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association Rekha Gupta, Meenal Agarwal, Vijay R. Boqqula, American Journal of Medical Genetics Part A	2013	22
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination Keiko Shimojima, Nobuhiko Okamoto, Yume Suzuki, Journal of Human Genetics Severe Brain ImpairmentNeurological FunctioningSubtelomeric DeletionsNeurophysiologyNeuroanatomy	2012	22
“Symptomatic” infection-associated acute encephalopathy in children with underlying neurological disorders Yoshimichi Hirayama, Yoshiaki Saito, Yoshihiro Maegaki Brain and Development Neurobiology Of DiseaseNeurological DisorderNeuroinfectious DiseasesMedicinePathogenesis	2016	21

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