2009 Sep 66(3):415-9.įor epilepsies involving atypical absence seizures, karyotype and more detailed chromosomal analysis may be indicated. Early-onset absence epilepsy caused by mutation in the glucose transporter GLUT1. Seattle (WA): University of Washington 2012. In: Pagon RA, Bird TD, Dolcan CR, editors et al. Glucose transporter type 1 deficiency syndrome. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. ![]() For patients under age 4 years or with intractable absence epilepsy, genetic testing of the SLC2A1 gene for GLUT1 deficiency should be considered. We examined how specific factors such as state, provocation, age, and epilepsy syndrome affect the EEG features of absence seizures. MRI findings are typically negative in EEG-confirmed generalized seizures, but potentially epileptogenic lesions are commonly found at imaging for patients with focal seizures 14, 15. ![]() As more genes are identified for these syndromes, this may become more common. Seizures can be classified as focal onset, generalized onset, and unknown onset. In rare instances with a characteristic family history of other generalized epilepsies (generalized epilepsy with febrile seizures plus ), commercial testing for SCNA gene mutations may be indicated.
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