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| http://dx.doi.org/10.1136/bcr-2022-253410 | DOI Listing |
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The epilepsy phenotype of KCNK4-related neurodevelopmental disease.
Seizure
October 2024
Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.
Introduction: Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described worldwide and still little is known about epileptic phenotype in KCNK4-related disease.
View Article and Find Full Text PDFKCNK4-related channelopathy causing a neurodevelopmental syndrome.
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Medical Genetics, University of California San Francisco, San Francisco, California, USA.
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