KCNK4-related channelopathy causing a neurodevelopmental syndrome
BMJ Case Rep
.
2023 Nov 6;16(11):e253410.
doi: 10.1136/bcr-2022-253410.
Authors
Ria Garg
1
,
Joseph Sullivan
2
,
David Blair
3
,
Robert Wallerstein
3
Affiliations
1
Medical Genetics, University of California San Francisco, San Francisco, California, USA riagarg333@gmail.com.
2
Pediatric Neurology, University of California San Francisco, San Francisco, California, USA.
3
Medical Genetics, University of California San Francisco, San Francisco, California, USA.
PMID:
37931962
PMCID:
PMC10632805
(available on
2025-11-06
)
DOI:
10.1136/bcr-2022-253410
No abstract available
Keywords:
Genetic screening / counselling; Genetics; Neurology.
Publication types
Case Reports
MeSH terms
Channelopathies*
Humans
Potassium Channels
Syndrome
Substances
KCNK4 protein, human
Potassium Channels