Article
Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
Seizure - 1 Jul 2023
Cutillo Gianni, Bonacchi Raffaello, Cecchetti Giordano, Bellini Anna, Vabanesi Marco, Zambon Alberto, Natali Sora Maria Grazia, Baldoli Cristina, Del Carro Ubaldo, Minicucci Fabio, Fanelli Giovanna F, Filippi Massimo
Abstract excerpt
PURPOSE: Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review...
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