RESUMEN
The Thr226Met pathologic variant of the SCN1A gene has been associated with the clinical development of an early infantile developmental and epileptic encephalopathy (EIDEE) different from Dravet's syndrome. The electrophysiological mechanisms of the mutated channel lead to a paradoxical gain and loss of function. The use of sodium channel blockers (SCB) that counteract this gain of function has been described in previous studies and they can be safely administered to patients carrying mutations in other sodium channel subtypes without causing a worsening of seizures. We report the use of SCB in a child harboring the Thr226Met pathologic variant of SCN1A with early-onset pharmaco-resistant migrating seizures, as well as developmental delay. Lacosamide led to a dramatic reduction in seizure frequency; however, only a mild improvement in the epileptic activity depicted by electroencephalography (EEG) was achieved. The introduction of carbamazepine as an add-on therapy led to a notable reduction in epileptic activity via EEG and to an improvement in sensorimotor development. Despite the overall clinical improvement, the patient developed febrile seizures and a nonepileptic jerking of the right hand. In this case of EIDEE with the Thr226Met variant, we demonstrate a beneficial pharmacological intervention of SCB in contrast to findings described in current literature. Our report encourages the cautious use of SCB at early stages of the disease in patients carrying this pathologic variant.
Asunto(s)
Epilepsias Mioclónicas , Epilepsia Generalizada , Epilepsia , Niño , Humanos , Bloqueadores de los Canales de Sodio/uso terapéutico , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Epilepsias Mioclónicas/tratamiento farmacológico , Mutación , Lacosamida/uso terapéutico , Canal de Sodio Activado por Voltaje NAV1.1/genéticaRESUMEN
Drawing and handwriting are fine motor skills acquired during childhood. We analyzed the development of laterality by comparing the performance of the dominant with the nondominant hand and the effect of bimanual interference in kinematic hand movement parameters (speed, automation, variability, and pressure). Healthy subjects (n = 187, 6-18 years) performed drawing tasks with both hands on a digitizing tablet followed by performance in the presence of an interfering task of the nondominant hand. Age correlated positively with speed, automation, and pressure, and negatively with variability for both hands. As task complexity increased, differences between both hands were less pronounced. Playing an instrument had a positive effect on the nondominant hand. Speed and automation showed a strong association with lateralization. Bimanual interference was associated with an increase of speed and variability. Maturation of hand laterality and the extent of bimanual interference in fine motor tasks are age-dependent processes.
