Heterogeneidad clínica y molecular en los trastornos asociados con CDKL5

Heterogeneidad clínica y molecular en los trastornos asociados con CDKL5

Introducción: El síndrome por deficiencia de CDKL5 es originado por variantes patogénicas en el gen CDKL5, con un espectro clínico variable que va desde pacientes con características del trastorno del espectro autista hasta epilepsia de inicio temprano y refractaria al tratamiento. Inicialmente fue...

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Bibliographic Details
Main Authors:	José J. Vázquez-Montante, Paola Márquez-Rojo, Berenice Saavedra-Milán, Cristina Hernández-Medrano, Antonio Bravo-Oro
Format:	Article
Language:	English
Published:	Permanyer 2023-01-01
Series:	Boletín Médico del Hospital Infantil de México
Subjects:	CDKL5. Trastorno por deficiencia de CDKL5. Encefalopatía epiléptica temprana. Retraso global del neurodesarrollo. Epilepsia refractaria.
Online Access:	https://www.bmhim.com/frame_esp.php?id=379

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