Article
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.
Cerebral cortex (New York, N.Y. : 1991) - 1 Oct 2020
Lenge Matteo, Marini Carla, Canale Edoardo, Napolitano Antonio, De Masi Salvatore, Trivisano Marina, Mei Davide, Longo Daniela, Rossi Espagnet Maria Camilla, Lucenteforte Ersilia, Barba Carmen, Specchio Nicola, Guerrini Renzo
Abstract excerpt
Protocadherin-19 (PCDH19) is a calcium dependent cell-adhesion molecule involved in neuronal circuit formation with prevalent expression in the limbic structures. PCDH19-gene mutations cause a developmental encephalopathy with prominent infantile onset focal seizures, variably associated with intellectual disability and autistic features. Diagnostic neuroimaging is usually unrevealing. We used quantitative MRI to...
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