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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.
Pericentric and Paracentric Inversions Chromosome inversions are structural anomalies in which a segment of the chromosome is broken and reinserted in an inverted direction (180 degrees): Pericentric Inversion: The inverted segment includes the centromere. There is a risk of giving rise to unbalanced gametes with duplications and partial deletions after meiotic crossing-over, which can…
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.
