Diagnosis of Different Types of Early Infantile Epileptic Encephalopathies with Whole Exome Sequencing: A Three-Year Cohort Study

Paria Najarzadeh Torbati, Ehsan Ghayoor,Mohammad Doosti,Najmeh Ahangari,Farah Ashrafzadeh,Javad Akhondian,Mehran Beiraghi Toosi,Mojtaba Safi,Soheila Abedini,Hadis Malek, Masoumeh Rahmani,Samaneh Maskani,Farima Farsi,Shima Imannezhad

Authorea (Authorea)（2023）

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摘要

Objective: Early Infantile Epileptic Encephalopathies (EIEEs) are the most severe end of the spectrum of early-onset epilepsies which usually lead to progressive psychomotor impairment. They start with different types of severe seizures in the early infantile period which are drug-resistant and lead to progressive brain dysfunction such as intellectual disability, severe

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early infantile epileptic encephalopathies,whole exome,diagnosis,three-year

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