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Clinical Cases and Reviews in Epilepsy

Epilepsy with refractory multiple seizure types in chromosome 5q14.3 deletion syndrome

Clinical Case, 44 - 48
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drug-resistant epilepsy at 3 months of age and featuring multiple seizure types such as myoclonic seizures, upper eye deviation, and epileptic spasms. EEG showed generalized spike-wave and polyspike-wave complexes. Different anti-epileptic drugs were tested in various combinations but seizures persisted. Seizures were stopped by clobazam. Neurological examination showed a severe global developmental delay with axial hypotonia, stereotyped afinalistic movements of all limbs and mild facial dysmorphism. Brain MRI revealed only a mild dilatation of the arachnoid spaces prominent in the frontopolar regions. At array comparative genomic hybridization (CGH) a de novo deletion in the 5q14.3 region was detected, this region including several genes: MEF2C, GPR98, CETN3, MBLAC2, POLR3G, LYSMD3. Conclusion: This child presents mild facial dysmorphic features and a normal pattern of myelination on MRI brain in contrast with other patients with “chromosome 5q14.3 deletion syndrome”. Furthermore, the epilepsy phenotype was not previously reported in the literature and although to date MEF2C haploinsufficiency has been considered the main cause of epilepsy, our report strengthens the idea that clinical and EEG might be due to haploinsufficiency of another gene, such as ADGRV1.

Vol. 3 (No. 1-4) 2018 January - December

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