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Clinical Cases and Reviews in Epilepsy

Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases

Brief report/Clinical Cases, 173 - 177
doi: 10.11138/ccre/2016.1.2.173
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Abstract
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Since November 2013 to January 2016 we recruited patients with epilepsy and intellectual disability (ID) referring to our Epilepsy Center. Patients underwent full clinical and neurophysiologic evaluation.
When possible they underwent neuroradiologic investigations. Cases with unknown etiology also underwent genetic analysis.
We recruited 114 patients (62 M, 62 F; mean age 39 years). Mean age at epilepsy onset was 5 years old. The degree of ID was borderline in 5% of patients, mild in 35%, moderate in 33.5% and severe in 26.5%. EEG showed epileptiform abnormalities in 84.5% of patients. Ninety-two patients out of the 114 recruited did not have an etiological diagnosis, so they underwent neuroradiologic and genetic investigations. In 7 cases a structural brain lesion was observed. In 16 out of the 54 patients that underwent genetic analysis an etiology was identified: ring20 chromosome (4), SCN1A mutation (4), GLUT1 deficiency syndrome (2), MECP2 dupli-Clinical Cases and Reviews in Epilepsy 2016; 1(2):173-177 173 cation syndrome (1), velocardiofacial syndrome (1), DCX gene alteration (1), and array-CGH abnormalities (3). In these patients the etiological diagnosis was made after 27 years (range 9-49 years) from the disease onset.
In a population of adult patients with epilepsy and ID with unknown etiology a genetic cause was identified in one third of the tested patients after 27 years from the disease onset.

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