Panel: Prof. Helen Cross, Prof. Hideo Yamanouchi, Prof. Elaine Wirrell, Prof. Nicola Specchio.
A panel of four epilepsy specialists discusses how to recognize, diagnose, and treat CDKL5 deficiency disorder (CDD), a rare developmental and epileptic encephalopathy.
0:10 - Introduction: Prof. Helen Cross outlines the program structure and introduces the faculty panel.
1:48 - Clinical recognition of CDD: Prof. Nicola Specchio describes the hallmark features that should prompt clinicians to suspect CDD in an infant.
5:04 - Differential diagnosis: Prof. Elaine Wirrell explains how to distinguish CDD from Rett syndrome and Dravet syndrome.
11:08 - Why early diagnosis matters: Prof. Specchio covers how a confirmed genetic diagnosis shortens the diagnostic odyssey and enables targeted multidisciplinary care.
18:04 - Treatment strategies: Prof. Hideo Yamanouchi presents the layered approach to seizure management, from ganaxolone and fenfluramine to ketogenic diet and VNS.
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