Diagnostic Exome Sequencing in Patients with Epilepsy

Diagnostic exome sequencing is becoming a useful tool in the diagnosis in patients with epilepsy. Large series of patients have shown diagnosis rates up to 30% in selected patients.

We describe the results of exome sequencing performed in a hundred patients with epilepsy meeting at least one of the following criteria:

1. benign epileptic (familiar) syndromes in newborns and infants;

2. epileptic encephalopathies in newborns and infants;

3. seizures related to fever;

4. absence epilepsy with early onset or with autosomal-dominant inheritance pattern or associated with nonepileptic paroxysmal disorders;

5. epilepsy with myoclonic–atonic seizures;

6. epilepsy with continuous spike-waves during sleep;

7. epilepsy related to malformations of cortical development;

8. not well classified epilepsies associated with intellectual disability. We present the diagnostic yield of exome sequencing in our series of patients and discuss the contribution to the management of these patients.

In conclusion, exome sequencing performed in selected patients is a useful tool in clinic practice influencing diagnostic and therapeutic decisions.

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