ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet-Reference-Cited by-同舟云学术

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ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet

Published:2024-04 Issue: Volume:117 Page:1-5
ISSN:1059-1311
Container-title:Seizure: European Journal of Epilepsy
language:en
Short-container-title:Seizure: European Journal of Epilepsy

Author:

Xie Yi,Su Tangfeng^ORCID,Liu Yan,Xu Sanqing

Publisher

Elsevier BV

Reference13 articles.

1. De Novo variants disrupting the HX repeat motif of ATN1 cause a recognizable non-progressive neurocognitive syndrome[J];Palmer;Am J Human Genet,2019

2. ATN1-related neurodevelopmental disorder;Whitton,2022

3. Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance[J];Zhang;Nat Commun,2014

4. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum[J];Palmer;Clin Genet,2021

5. CHEDDA syndrome: a case report and review of the literature for this newly described entity[J];Hui;Radiol Case Rep,2020

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