The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizure semiology, head circumference.
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome / Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini. - In: CEREBRAL CORTEX. - ISSN 1047-3211. - ELETTRONICO. - 33:(2023), pp. 9709-9717. [10.1093/cercor/bhad235]
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
Matteo Lenge;Davide Mei;Elena Parrini;Renzo Guerrini
2023
Abstract
The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizure semiology, head circumference.
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