Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Abstract excerpt

BACKGROUND: Mutations in the KCNJ10 gene cause SeSAME syndrome, an autosomal recessive disorder characterised by seizures, sensorineural deafness, ataxia, intellectual impairment and electrolyte imbalances. KCNJ10 encodes an inwardly rectifying potassium channel Kir4.1, which is essential for preserving potassium ion homeostasis. METHODS: We assessed three Iranian families with SeSAME syndrome-like symptoms...

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