Cic edizioni internazionali
Clinical Cases and Reviews in Epilepsy

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

Clinical Case, 44 - 48
Tag this article
Abstract
Full text PDF
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

  1. Towards precision medicine in genetic epilepsies
    Balestrini S.
  2. SCN8A-related phenotypes: an overview of the literature
    Solazzi R., Dalla Bernardina B., Darra F.
  3. Stereo-electro-encephalography and epilepsy surgery in patients with temporal lobe epilepsy and normal Magnetic Resonance Imaging
    Mariani V., Revay M., D’Orio P., Rizzi M., Pelliccia V., Nichelatti M., Bottini G., Nobili L., Tassi L., Cossu M.
  4. Seizures at adult emergency department in a tertiary hospital in Burkina Faso
    Dabilgou A.A., Dravé A., Bonkoungou P., Kyelem J.M.A., Bonkoungou A., Napon C., Kaboré J.
  5. Epilepsy with seizures induced by movement: a rare reflex epilepsy
    Boero G., Pontrelli G., Internò S.
  6. Temporal lobe epilepsy, corticobasal syndrome and mild cognitive impairment due to amyloid pathology
    Martino T., d'Orsi G., Carapelle E., Lalla A., Di Claudio M.T., Avolio C.
  7. Status epilepticus and autoimmune pancytopenia: the numerous targets of autoimmunity
    Tozzo A., Ardissone A., Canafoglia L., Casazza M, Franceschetti S., Ciusani E., Granata T.
  8. CNTN2 gene: probable cause of Epileptic Encephalopathy Lennox-Gastaut like phenotype
    Prato A., Scuderi A., Garufi M., Pironti E., Cucinotta F., Lo Re E., Calabrò N., Spanò M., Sgrò D.L., Gagliano A.
  9. Epilepsy with refractory multiple seizure types in chromosome 5q14.3 deletion syndrome
    Marchese F., Vari M.S., Pinto F., Balagura A., Madia F., Capra V., Zara F., Minetti C., Striano P.
  10. Patients with epilepsy and inherited 16p11.2 microdeletions encompassing PRRT2 gene: three case reports
    Balagura G., Vignoli A., Nella Savini M., Marchese F., Vari M.S., Salpietro V., Zara F., Striano P.
  11. Ethosuximide-induced Lupus and discontinuation of carbamazepine treatment when Lupus is suspected: two paediatric cases
    Damioli S., Accorsi P., Mahmoud O., Fazzi E.M., Giordano L.
  12. Localizing value of epileptic ecstatic seizures in a patient with focal epilepsy due to temporal DNET
    Russo M., Rizzi R., Pascarella R., Zanichelli M., Bondavalli M., Valzania F.
  13. Study group on epilepsy and cerebral tumours
    Michelucci R., Aguglia U., Beghi E., Casazza M.L., Costa C., di Bonaventura C., Esposito V., Giallonardo A.T., La Neve A., Marras C.E., Maschio M., Paladin F., Pasini E., Quadri S., Striano P., Villani F., Vitali P.
  14. The Epimena Study: digital narrative methodologies for epilepsy treatment pathway personalization
    Mecarelli O., Cenci C.
  15. A prospective case-control study on risk factors for SUDEP
    Beghi E., La Neve A., Mecarelli O., Striano P., Tinuper P.
  16. Antiepileptic Drugs Commission: where we are and where do we want to go
    Russo E., La Neve A., Beghi E., Capovilla G., di Bonaventura C., Giorgi F.S., Grosso S., Iannone L., Roberti R., Romani A., Specchio L.M., Zaccara G., Iudice A.
  17. The Epilepsy and Gender Commission
    Mostacci B., Aguglia U., Bilo L., Ermio C., Galimberti C.A., Giuliano L., La Neve A., Monti G., Ranzato F., Zambrelli E.
  18. Epilepsy and headache: the contribution of the Italian study group to the new ICHD-3 classification
    Dainese F., Avanzini G., Belcastro V., La Neve A., Pruna D., Paladin F.
  19. Study Group Cannabis and Epilepsy
    Lodi M., Cannazza G., Granata T., Russo E., Santucci M., Ambrosetto G.
  20. Transition and epilepsy
    Beccaria F., Capovilla G.
  21. Dissemination of Epilepsy Surgery
    Asioli S., Barba C., Caulo M., Colicchio G., Consales A., Cossu M., De Palma L., Di Gennaro G., Marras C.E., Vatti G., Villani F., Zamponi N.
Last Viewed articles: la lista degli ultimi x visitati.
  1. Epilepsy with refractory multiple seizure types in chromosome 5q14.3 deletion syndrome
    Marchese F., Vari M.S., Pinto F., Balagura A., Madia F., Capra V., Zara F., Minetti C., Striano P.
credits