Infantile hemiconvulsion-hemiplegia epilepsy syndrome associated with GRIN2A gene mutation
| Autor: | Kravljanac Ružica, Gazikalović Slobodan, Vučetić-Tadić Biljana |
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| Jazyk: | English<br />Serbian |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Srpski Arhiv za Celokupno Lekarstvo, Vol 149, Iss 7-8, Pp 485-488 (2021) |
| Druh dokumentu: | article |
| ISSN: | 0370-8179 2406-0895 |
| DOI: | 10.2298/SARH201125049K |
| Popis: | Introduction. Infantile hemiconvulsion–hemiplegia and epilepsy (IHHE) syndrome is defined as a specific syndrome in patients < 2 years of age, presenting as a new onset refractory status epilepticus with unilateral motor seizures and acute imaging abnormalities, fever, hemiparesis > 24 hours, and excluding infectious encephalitis. Case outline. We present the results of a follow-up in a 11-year-old girl with IHHE, associated with GRIN2A mutation. The girl had normal development until the first febrile hemiconvulsive status epilepticus at the age of seven months. Neuroimaging initially showed right hemisphere edema, followed by progressive right side hemiatrophy. The patient has resistant epilepsy, left side hemiparesis, and good language and cognitive development. Conclusion. Despite IHHE described many years ago, some syndrome’s features, including etiology, have remained unexplained. The association between IHHE and GRIN2A mutation stated in the current manuscript is described in scientific literature for the first time. |
| Databáze: | Directory of Open Access Journals |
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