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Category archives: Neurogenetics
PTC Epilepsy Seq Genetic Testing Program.
https://blueprintgenetics.com/ptc-seizure-seq/
Beyond The Pediatric Epilepsy Program.
https://blueprintgenetics.com/beyondpaediatricepilepsy/
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.»
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:
Genetic dystonias with "curative" treatment.
Diagnostic criteria for neonatal hypoxic-ischemic encephalopathy.
