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 Craddock
1
,
Jillian L McKee
2
,
Mark Fitzgerald
2
,
Rebecca Ahrens-Nicklas
3
,
Sonika Agarwal
4
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:
[email protected]
.
PMID:
36933275
DOI:
10.1016/j.pediatrneurol.2023.02.010
No abstract available
Keywords:
ATAD1; ATAD1-related encephalopathy; Neonatal hypertonia; Perampanel.
MeSH terms
Brain Diseases*
Humans
Infant, Newborn
Muscle Hypertonia
Mutation / genetics
Respiratory Insufficiency* / genetics
Substances
ATAD1 protein, human