KCNQ2-related epilepsy, intractable, without stat epi

This code identifies a severe form of epilepsy caused by a mutation in the KCNQ2 gene, characterized by seizures that are difficult to control with medication. The patient experiences ongoing, recurrent seizures despite adequate trials of antiepileptic drugs, but is not currently in a state of continuous seizure activity.

Apply this code when documentation explicitly states a diagnosis of KCNQ2-related epilepsy that is intractable or refractory to treatment. The patient's medical record must also confirm the absence of status epilepticus at the time of encounter. Genetic testing results confirming the KCNQ2 mutation would further support this diagnosis.

• Ensure documentation clearly specifies "intractable" or "refractory" and explicitly rules out status epilepticus.
• Do not use this code if the KCNQ2-related epilepsy is well-controlled or if status epilepticus is present.
• Consider sequencing this code after any underlying genetic condition if separately reportable and relevant to the encounter.