KCNT1

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the KCNT1 gene was identified in a female, age 12, with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features (read full description).

Date of Report

May 12, 2021

Full Name

Potassium Sodium-Activated Channel Subfamily T Member 1

Location

Chromosome 9 (9q34.3)

Function

The KCNT1 gene codes for a sodium-activated potassium channel that is expressed in the nervous system (Barcia et al., 2012)

Database Links

GeneCards: KCNT1

MedlinePlus Genetics: KCNT1

NCBI Gene: 57582

OMIM: 608167

UniProtKB/Swiss-Prot: Q5JUK3

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene KCNT1

Inheritance Pattern Autosomal dominant

Position (hg19) chr9:g.138678217C>T

Transcript NM_020822.2

DNA Change c.3352C>T

Protein Change p.Arg1118Cys

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