Neonatal Hypertonia and Progressive Respiratory Failure due to Novel Heterozygous Mutation in ATAD1

Pediatr Neurol. 2023 May:142:56-57. doi: 10.1016/j.pediatrneurol.2023.02.010. Epub 2023 Feb 24.

Authors

Kirsten E Craddock¹, Jillian L McKee², Mark Fitzgerald², Rebecca Ahrens-Nicklas³, Sonika Agarwal⁴

Affiliations

¹ Division of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
² Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
³ Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
⁴ Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania. Electronic address: agarwals2@chop.edu.

PMID: 36933275
DOI: 10.1016/j.pediatrneurol.2023.02.010

No abstract available

Keywords: ATAD1; ATAD1-related encephalopathy; Neonatal hypertonia; Perampanel.

MeSH terms

ATPases Associated with Diverse Cellular Activities
Brain Diseases*
Humans
Infant, Newborn
Muscle Hypertonia
Mutation / genetics
Respiratory Insufficiency* / genetics

Substances

ATAD1 protein, human
ATPases Associated with Diverse Cellular Activities