[Rett syndrome: report of a new pathogenic variant and review of the literature regarding two clinical cases.].

IntroducciÓn: El síndrome de Rett es un trastorno del neurodesarrollo con una frecuencia estimada de 1/10,000 recién nacidos vivos, el cual se presenta con un modelo de herencia ligado al cromosoma X. Las variantes patogénicas en el gen MECP2, el cual codifica para una proteína que participa en el desarrollo y la diferenciación del sistema nervioso central, causan este síndrome. El objetivo de este trabajo fue describir dos casos de síndrome de Rett, uno de ellos con una nueva variante del gen MECP2.

Neurophysiological findings of auditory evoked potentials in infants with a history of prematurity.

Background: Auditory evoked potentials (AEPS) constitutes the most commonly used neurophysiological test to assess the functional development of the auditory brainstem in infants and allows the evaluation of hearing for high frequencies.

Methods: An observational, descriptive, cross-sectional and retrospective study was conducted. The AEPS results for 186 infants (372 ears) with a history of prematurity were examined.

Pediatric Montages in Clinical Practice.

The montages in clinical EEG recordings in neonates, infants, and children follow some basic principles of adolescent or adult EEG recordings; however, special considerations are needed to obtain optimal diagnostic yield in pediatric patients. The aim of this review is to summarize the pediatric montages recommended in clinical practice in the standard clinical neurophysiology laboratory and in special situations.