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

doi:10.22541/au.169864964.41502162/v1

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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

Abstract

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