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Abstract #5217

Neurite orientation and dispersion density imaging (NODDI) to detect PCDH19 related microstructural anomalies.

Antonio Napolitano1, Chiara Parrillo1, Giulia Baldassari1, Daniela Longo1, Maria Camilla Rossi Espagnet1, and Lorenzo Figa' Talamanca1
1Bambino Gesù Children's Hospital, Rome, Italy

Synopsis

Keywords: Epilepsy, Diffusion/other diffusion imaging techniques, NODDIProtocadherin 19 (PCDH19)-clustering epilepsy (PCDH19-CE) is a genetic form of epilepsy caused by a mutation of PCDH19-CE gene that begins in the first year of life. Patients with this disorder may present intellectual disability, behavioral problems and motor and language delay. Using advanced Magnetic Resonance Imaging (MRI) methods we were able to highlight microstructural changes of brain in PCDH patients. These results shows that Neurite orientation dispersion and density imaging (NODDI) techniques might be useful tools to investigate PCDH19 anomalous arborization.

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