Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus : Clinical Dysmorphology

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Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

Majethia, Purvia; Harish, Rheaa; Narayanan, Dhanya Lakshmia,b; B L, Yatheeshac; Sharma, Suvasinid; Shukla, Anjua

Author Information

aDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal

bDBT Wellcome Trust India Alliance Early Career Clinical and Public Health Research Fellow, Hyderabad

cPaediatric Neurology, Dheemahi Child Neurology and Development Center, Shimogga

dNeurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children’s Hospital, New Delhi, India

Received 17 March 2023 Accepted 17 April 2023.

Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, http://www.clindysmorphol.com.

Correspondence to Dr Anju Shukla, MD, DM, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, Karnataka, India, Tel: +91 820 2923149; e-mail: [email protected]

Clinical Dysmorphology 32(4):p 147-150, October 2023. | DOI: 10.1097/MCD.0000000000000463

Abstract

Introduction 

KCNK18, a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, susceptibility to, 13 (MIM#613656). Recently, biallelic missense variants in KCNK18 have been reported in three individuals from a non-consanguineous family with intellectual disability, developmental delay, autism spectrum disorder (ASD), and seizure.

Methods 

Singleton exome sequencing was performed for the proband after detailed clinical evaluation to identify the disease-causing variants in concordance with the phenotype.

Results 

We herein report an individual with intellectual disability, developmental delay, ASD, and epilepsy with febrile seizure plus with a novel homozygous stopgain variant, c.499C>T p.(Arg167Ter) in KCNK18.

Conclusion 

This report further validates KCNK18 as a cause of autosomal recessive intellectual disability, epilepsy, and ASD.

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