Preview

Epilepsy and paroxysmal conditions

Advanced search

Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects

https://doi.org/10.17749/2077-8333/epi.par.con.2021.053

Full Text:

Abstract

A clinical case of a boy aged 20 months old with early infantile epileptic encephalopathy (EIEE) type 54 due to mutated HNRNPU gene presumably suffering from genetic generalized epilepsy and impaired psychomotor development is described. Exome-wide sequencing was carried out by using NextSeq 500 (Illumina, USA). Video electroencephalographic (VEEG) monitoring was conducted by using NeuroScope NS425 (Biola, Russia). The patient was noted to suffer from neonatal delayed motor development and muscular hypotonia with atypical petit mal epilepsy with regional onset at the occipital-parietal-posterior temporal areas based on VEEG data developed at age of eight months as well as progressive psychoemotional disorders. Ethosuximide and valproic acid administered together were efficient in alleviating EIEE seizures that requires to be further followed up. The data obtained allow to identify a precise etiology of epilepsy and apply a differential approach to administer anti-epileptic agents.

About the Authors

D. V. I
Khabarovsk Center for the Development of Psychology and Childhood “Psylogia”; Far Eastern State Medical University
Russian Federation

Dmitriy V. I – Neurologist, Deputy Director General for Research and Medical Activities, Khabarovsk Center for the Development of Psychology and Childhood “Psylogia”; Assistant Professor, Chair of Neurology and Neurosurgery, Far Eastern State Medical University

RSCI SPIN-code: 3332-5052

5a Tramvaynyy Proezd, Khabarovsk 680012

35 Muravyev-Amurskiy Str., Khabarovsk 680000



V. A. Aysina
National Medical Research Center for Children's Health
Russian Federation

Viktoria А. Aysina – Junior Researcher, Functional Diagnostician

Scopus Author ID: 57203384621; RSCI SPIN-code: 7756-2303

2 bld. 1 Lomonosovskiy Prospect, Moscow 119991



References

1. OMIM® (Online Mendelian Inheritance in Man) – An Online Catalog of Human Genes and Genetic Disorders. Updated October 7, 2020. Available at: https://omim.org/phenotypicSeries/PS308350 (accessed 15.04.2021).

2. Tavyev Asher Y.J., Scaglia F. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet. 2012; 55 (5): 299–306. https://doi.org/10.1016/j.ejmg.2012.04.002.

3. Kato M., Saitoh S., Kamei A., et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet. 2007; 81 (2): 361–6. https://doi.org/10.1086/518903.

4. de Kovel C.G., Brilstra E.H., van Kempen M.J., et al. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Molec Genet Genomic Med. 2016; 4 (5): 568–80. https://doi.org/10.1002/mgg3.235.

5. Hamdan F.F., Srour M., Capo-Chichi J.M., et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014; 10 (10): e1004772. https://doi.org/10.1371/journal.pgen.1004772.

6. Allen A.S., Berkovic S.F., Cossette P., et al. De novo mutations in epileptic encephalopathies. Nature. 2013; 501 (7466): 217–21. https://doi.org/10.1038/nature12439.

7. Carvill G.L., Heavin S.B., Yendle S.C., et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genet. 2013; 45 (7): 825–30. https://doi.org/10.1038/ng.2646.


For citation:


I D.V., Aysina V.A. Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects. Epilepsy and paroxysmal conditions. 2021;13(2):132-139. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2021.053

Views: 408


ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)