X-linked Female-limited Epilepsy with Mental retardation (EFMR, OMIM#300088) is characterized by seizure onset in infancy or early childhood (6-36 months) and cognitive impairment. Seizures are predominantly generalized, including tonic-clonic, myoclonic, tonic and atonic seizures. The spectrum of phenotypes has been extended to include female patients with early onset epileptic encephalopathies resembling Dravet syndrome or focal epilepsy with or without mental retardation. EFMR is caused by mutations in PCDH19 (protocadherin 19; OMIM#300460), located at Xq22. We offer full gene sequencing of all coding exons and intron/exon boundaries of PCDH19 by direct sequencing of amplification products in both the forward and reverse directions. PCDH19 sequencing is also available as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel. Please see our information sheet for more details.
Specimen Types Accepted