title: Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.
abstract: We describe the EEG findings of an infant with early-onset epileptic encephalopathy with mutation of the KCNQ2 gene and a family history of neonatal seizures. The infant presented with multifocal drug-resistant seizures with onset during the third day of life. Family history was positive for early-onset neonatal seizures. Metabolic screening and neuroimaging were negative. Direct sequencing of KCQN2 from both the mother and child revealed a heterozygous cytosine-to-guanine mutation (Dedek et al., 2003). Interictal EEG showed a very discontinuous pattern which evolved towards a defined burst-suppression pattern during sleep and a multifocal, random, attenuation pattern during wakefulness. Focal, tonic seizures with head deviation, sometimes followed by asynchronous and asymmetrical clonic jerks, eyelid myoclonias, and polypnoea, were recorded. Ictal EEG was characterised by focal, low-voltage, fast activity, followed by recruiting theta rhythms and bilateral, focal, spike-wave complexes, alternatively localised to one hemisphere and subsequently diffusing to the other. ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks. [Published with video sequences].
authors.affiliation: Neurology Division, Ospedale Pediatrico Bambino Gesù, Rome. domenico.serino@opbg.net
authors.forename: Domenico
authors.initials: D
authors.lastname: Serino
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pontrelli
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Lucia
authors.initials: L
authors.lastname: Fusco
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D051658:KCNQ2 Potassium Channel / Q000235:genetics; D008297:Male; D009154:Mutation; D014741:Video Recording
chemical_list: D006728:Hormones; D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D000324:Adrenocorticotropic Hormone
keywords: KCNQ2; burst-suppression; encephalopathy; epilepsy; infant