To interpret the semiology of motor disorders, it is necessary to know the hierarchy of control of the motor system.
Category archives: Clinical guide
Chromosomes in the ring.
Pericentric and paracentric inversions.
Inversiones Pericéntricas y Paracéntricas Las inversiones cromosómicas son anomalías estructurales en las que un segmento del cromosoma se rompe y se reinserta en sentido invertido (180 grados): Inversión Pericéntrica: El segmento invertido incluye el centrómero. Existe riesgo de dar lugar a gametos desbalanceados con duplicaciones y deleciones parciales tras el crossing-over meiótico, lo que puede …
Continue reading «Inversiones pericéntricas y paracéntricas.»
Pediatric dentistry in special patients.
Dental Clinic of the University of Valencia. Red Cross Dental Clinic.
Classification of epilepsies of the ILAE Task Force.
Transmissible epilepsy and development.
Beyond the ion channel.
"De novo" mutations.
In recent years, "de novo" mutations, those not inherited from either parent, have gained special relevance in pediatric neurology, for several reasons:
When to suspect a genetic disease?
Diagnostic suspicion is based on 3 pillars: There are several diagnostic strategies, which can be grouped into:
When do you suspect an error congenital metabolism?
Inborn errors of metabolism are diseases usually of autosomal recessive inheritance (although there are some of X-linked inheritance), and in some cases they are susceptible to curative treatment, which is why it is important to identify them early.
