Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

• DOI: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a
• Publication Date: 2014-03-12T16:55:06Z
• Authors: Christel Depienne; Delphine Bouteiller; Boris Keren; Emmanuel Cheuret; Karine Poirier; Oriane Trouillard; Baya Benyahia; Chloé Quelin; Wassila Carpentier; Sophie Julia; Alexandra Afenjar; Agnès Gautier; François Rivier; Sophie Meyer; Patrick Berquin; Marie Hélias; Isabelle Py; Serge Rivera; Nadia Bahi-Buisson; Isabelle Gourfink...; Cécile Cazeneuve; Merle Ruberg; Alexis Brice; Rima Nabbout; Eric LeGuern
• Keywords: Dravet syndrome; Rett Syndrome; Proband

Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene.Since 2003, we have performed molecular analyses large series of patients with DS, 27% whom were negative for or rearrangements SCN1A.In order to identify new genes responsible disorder SCN1A-negative patients, 41 probands screened micro-rearrangements Illumina high-density SNP microarrays.A hemizygous deletion on chromosome Xq22.1,encompassing PCDH19 gene, was found one male patient.To confirm that Dravet-like syndrome, sequenced its coding region 73 additional SCN1Anegative patients.Nine different point (four missense and five truncating mutations) identified 11 unrelated female patients.In addition, demonstrated fibroblasts our patient mosaic deletion.Patients had very similar clinical features including association early febrile afebrile seizures, seizures occurring clusters, developmental language delays, behavioural disturbances, cognitive regression.There were, however, slight but constant differences evolution fewer polymorphic (in particular rare myoclonic jerks atypical absences) those mutations.These results suggest plays major role encephalopathies, spectrum overlapping DS.This affects females.The identification an affected strongly supports hypothesis cellular interference pathogenic mechanism.