Research Article
Volume 9 Issue 4 - 2020
Case of Epileptic Encephalopathy with Mental Retardation Due to KIAA2022 Gene Impairment (Mental Retardation X-Linked 98)
Kholin AA* and Kholina EA
Neurology, Neurosurgery and Medical Genetics Department of Pediatric Faculty Named After Academician L.O. Badalyan, Pirogov Russian National Research Medical University of the Russia Ministry of Health, Moscow, Russia
*Corresponding Author: Kholin AA, Neurology, Neurosurgery and Medical Genetics Department of Pediatric Faculty Named After Academician L.O. Badalyan, Pirogov Russian National Research Medical University of the Russia Ministry of Health, Moscow, Russia.
Received: February 24, 2020; Published: March 16, 2020


The article describes the case of X-linked mental retardation-98 in 21-years-old young male with clinical characteristics of epileptic encephalopathy, mental retardation and autistic features. Was identified previously not described variant of de novo microdeletion in KIAA2022 (NEXMIF) gene on chromosome X: g.73962680_73962683del ENST00000055682.6: c.1713_1716del ENSP00000055682.5: p.Ser571ArgfsTer13 in result of microdeletion of four nucleotides caused reading frame shift error. Patient demonstrated seizure onset from the age of 1 year and 2 month with propulsive epileptic spasms and later the wide polymorphism of seizure types: propulsive tonic spasms isolated and in series, myoclonic, tonic axial and axorhizomelic seizures, ohthalmotonic seizures, asymmetric tonic versive, global tonic and tonic-vibratory seizures, tonic-autonomic seizures with dyspnoe and acrocyanosis, dialeptic seizures, asymmetric tonic seizures with pharyngo-oral automatisms, peak-wave stupor episodes with atypical absences, rarely - bilateral tonic-clonic seizures. EEG video monitoring demonstrated multifocal epileptiform spike-wave activity, secondary bilateral synchronization with diffuse spreading. The case was pharmacoresistant, but cannabidiol treatment caused positive effect in significant decreasing of epileptiform discharges and seizures.

Keywords: Epileptic Encephalopathy; Mental Retardation Non-Syndromic X-Linked; Mental Retardation X-Linked 98; MRX98; KIAA2022 Gene


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Citation: Kholin AA and Kholina EA. “Case of Epileptic Encephalopathy with Mental Retardation Due to KIAA2022 Gene Impairment (Mental Retardation X-Linked 98)”. EC Psychology and Psychiatry 9.4 (2020): 11-17.

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