Bittmann, Stefan and Luchter, Elisabeth and Moschüring-Alieva, Elena and Bittmann, Lara and Shirinova, Aysel (2023) EFMR Syndrome: Epilepsy and Mental Retardation Restricted to Females in Childhood. Asian Journal of Pediatric Research, 13 (3). pp. 29-33. ISSN 2582-2950
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Abstract
Epilepsy with intelligence impairment, restricted to the female sex, is a rare X-linked epilepsy syndrome. It is characterized by febrile or afebrile seizures, mainly tonic-clonic, but also absence, myoclonic, and atonic beginning in the first years of life. In most cases, developmental delay and intelligence impairment of varying severity is present. Behavioral disorders, autistic traits, hyperactivity, and aggressiveness are commonly associated. This disease exclusively affects females. Male carriers are not affected despite an X-linked inheritance.
Item Type: | Article |
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Subjects: | Lib Research Guardians > Medical Science |
Depositing User: | Unnamed user with email support@lib.researchguardians.com |
Date Deposited: | 14 Oct 2023 10:14 |
Last Modified: | 14 Oct 2023 10:15 |
URI: | http://journal.edit4journal.com/id/eprint/1900 |