KCNK9

Management

Children need physical therapy for severe generalized hypotonia, occupational therapy for fine motor and feeding difficulties, and speech therapy for delayed speech and language. Treatment may require the coordinated efforts of a team of specialists (pediatricians, pediatric neurologists, speech pathologists, gastroenterologists, psychiatrists, and other healthcare professionals). Genetic counseling may be of benefit for affected individuals and their families. Seizures may be treated with anticonvulsants. Based on research in mouse models, specific nonsteroidal inflammatory drugs (flufenamic acid and mefenamic acid) have been used to treat children with KCNK9 imprinting syndrome due to the G236R variant. There are anecdotal reports that a few children have shown a favorable response to these drugs with no adverse effects. These medications have agonist activity that is thought to recover more normal channel function for those individuals with a genetic alteration that leads to reduced TASK3 channel activity.