Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report
Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, mov...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2021-07-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/364 |
| _version_ | 1797874482544640000 |
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| author | N. G. Lyukshina A. A. Sharkov E. N. Tolmacheva |
| author_facet | N. G. Lyukshina A. A. Sharkov E. N. Tolmacheva |
| author_sort | N. G. Lyukshina |
| collection | DOAJ |
| description | Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, movement disorders with dystonia and choreoathetosis, ataxia, dysarthria, dysmetria, and dysdiadochokinesis. Epilepsy is a common manifestation of the disease (around 70 % of cases), from the age of 6 months to 26 years. Semiology of seizures is vary, including infantile spasms, myoclonic, tonic or clonic seizures with nonspecific electroencephalographic changes. magnetic resonance imaging shows normal brain development at an early age and cortical and cerebellar atrophy developing over time. The authors present a clinical case describing a patient with a causative de novo variant (c.2152delT) in the IRF2BPL gene in Russia.This patient was included to common table in an article entitled “De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy” (DOI: 10.1038/s41436-018-0143-0). |
| first_indexed | 2024-04-10T01:31:41Z |
| format | Article |
| id | doaj.art-939198e216c84ffa86ddeee83d086c9a |
| institution | Directory Open Access Journal |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| last_indexed | 2024-04-10T01:31:41Z |
| publishDate | 2021-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj.art-939198e216c84ffa86ddeee83d086c9a2023-03-13T09:30:12ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782021-07-01161-2697510.17650/2073-8803-2021-16-1-2-69-75244Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case reportN. G. Lyukshina0A. A. Sharkov1E. N. Tolmacheva2ООО «МИДЕАЛ»Отдел психоневрологии и эпилептологии НИКИ педиатрии им. Ю.Е. Вельтищева ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.Н. Пирогова» Минздрава России; Медико-генетический центр «Геномед»Медико-генетический центр «Геномед»Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy onset. Patients have a specific facial phenotype, movement disorders with dystonia and choreoathetosis, ataxia, dysarthria, dysmetria, and dysdiadochokinesis. Epilepsy is a common manifestation of the disease (around 70 % of cases), from the age of 6 months to 26 years. Semiology of seizures is vary, including infantile spasms, myoclonic, tonic or clonic seizures with nonspecific electroencephalographic changes. magnetic resonance imaging shows normal brain development at an early age and cortical and cerebellar atrophy developing over time. The authors present a clinical case describing a patient with a causative de novo variant (c.2152delT) in the IRF2BPL gene in Russia.This patient was included to common table in an article entitled “De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy” (DOI: 10.1038/s41436-018-0143-0).https://rjdn.abvpress.ru/jour/article/view/364энцефалопатия развитияэпилептическая энцефалопатияэпилепсиягенетикагипотониязадержка развития |
| spellingShingle | N. G. Lyukshina A. A. Sharkov E. N. Tolmacheva Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report Русский журнал детской неврологии энцефалопатия развития эпилептическая энцефалопатия эпилепсия генетика гипотония задержка развития |
| title | Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report |
| title_full | Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report |
| title_fullStr | Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report |
| title_full_unstemmed | Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report |
| title_short | Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report |
| title_sort | developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the irf2bpl gene a case report |
| topic | энцефалопатия развития эпилептическая энцефалопатия эпилепсия генетика гипотония задержка развития |
| url | https://rjdn.abvpress.ru/jour/article/view/364 |
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