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1.
Seizure ; 56: 115-120, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29475094

RESUMEN

PURPOSE: BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG. METHODS: In a randomized controlled trial including 43 children with BECTS, EEGs were performed prior to treatment with either Sulthiame or Levetiracetam as well as three times under treatment. Using the spike-wave-index, the degree of EEG pathology was quantified. The EEG before and after initiation of treatment was analyzed. Both treatment arms were compared and the EEG of the children that were to develop recurrent seizures was compared with those that were successfully treated. RESULTS: Regardless of the treatment agent, the spike-wave-index was reduced significantly under treatment. There were no differences between the two treatment groups. In an additional analysis, the EEG characteristics of the children with recurrent seizures differed statistically significant from those that did not have any further seizures. CONCLUSION: Both Sulthiame and Levetiracetam influence the EEG of children with BECTS. Persistent EEG pathologies are associated with treatment failures.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Ondas Encefálicas/efectos de los fármacos , Epilepsia Rolándica/tratamiento farmacológico , Piracetam/análogos & derivados , Tiazinas/uso terapéutico , Niño , Método Doble Ciego , Electroencefalografía , Femenino , Alemania , Humanos , Levetiracetam , Masculino , Piracetam/uso terapéutico , Estudios Retrospectivos , Estadísticas no Paramétricas , Resultado del Tratamiento
2.
Hum Mutat ; 33(10): 1439-43, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22623405

RESUMEN

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone.


Asunto(s)
Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Espasmos Infantiles/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Humanos , Lactante , Masculino , Persona de Mediana Edad , Mutación , Linaje , Convulsiones Febriles/genética
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