title: PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.
abstract: Aim of this study is to compare PCDH19-related epilepsy and Dravet Syndrome (DS) in order to find out differences between these two infantile epilepsies with fever sensitivity. We retrospectively reviewed the medical records of 15 patients with PCDH19-related epilepsy and 19 with DS. Comparisons were performed with Fisher's exact test or Student's t-test. Females prevailed in PCDH19-related epilepsy. Epilepsy onset was earlier in DS (5.0+2.1 vs 11.2+7.0months; p<0.05). The second seizure/cluster occurred after a longer latency in PCDH19-related epilepsy rather than in DS (10.1±13.6 vs 2.2±2.1months; p<0.05). Seizures were mainly single and prolonged seizures in DS, and brief and clustered in PCDH19-related epilepsy. Myoclonic and clonic seizures have been found only in DS. Other types of seizures were found in both epilepsies with a prevalence of GTCS and atypical absences in DS, and focal motor and hypomotor seizures in PCDH19-related epilepsy. Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. Status Epilepticus equally occurred in both groups. Photosensitivity was detected only in DS. No differences were found about the presence of intellectual disabilities and behavioral disturbances. We were able to find out some distinctive features, which could address the diagnosis towards DS or PCDH19-related epilepsy, since first manifestation. These considerations suggest to definitively considering PCDH19 gene as cause of a proper epileptic phenotype.
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Clinic of Nervous System Diseases, University of Foggia, Foggia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Trivisano
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Pietrafusa
authors.affiliation: Epidemiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Vincenzo di
authors.initials: Vd
authors.lastname: Ciommo
authors.affiliation: Unit of Clinical Psychology, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Cappelletti
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Luca de
authors.initials: Ld
authors.lastname: Palma
authors.affiliation: Medical Genetic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Terracciano
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: nicola.specchio@opbg.net.
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
mesh_terms: D017668:Age of Onset; D015820:Cadherins / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D000073376:Epileptic Syndromes / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D010641:Phenotype; D000091363:Protocadherins; D012189:Retrospective Studies; D012727:Sex Characteristics
chemical_list: D015820:Cadherins; D062550:NAV1.1 Voltage-Gated Sodium Channel; C438605:PCDH19 protein, human; D000091363:Protocadherins; C568242:SCN1A protein, human
keywords: Dravet Syndrome; Epilepsy classification; Genetic epilepsy; PCDH19-related epilepsy; SCN1A