AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Deep phenotyping and genotyping of Pakistani multiplex families with either MCPH or Seckel syndrome found additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT —genes already known to be associated with neurological disorders.
This is the second report of autosomal recessive epilepsy associated with biallelic CACNB4 variants and genetic investigations play a crucial role in identifying mutation hotspots, facilitating more accurate diagnoses and enhancing the design of diagnostic panels for early detection.
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