"The condition, called recessive RNU2-2-related neurodevelopmental disorder, is associated with seizures and severe developmental delay in children less than a year-old, in areas such as speech and walking."
"We estimate roughly one in 40,000 people may be living with this condition, making it one of the most common neurodevelopmental disorders currently known."
"Parents have described the breakthrough as 'incredibly meaningful' and a starting point for better treatment and understanding of the condition."
"Researchers believe that as many as in one in 100 people could unknowingly be carriers of this condition."
Recessive RNU2-2-related neurodevelopmental disorder is identified as a significant genetic cause of childhood epilepsy, linked to seizures and developmental delays in children under one year old. Millions may be carriers of the faulty gene. Researchers from Manchester analyzed RNU gene changes using data from Genomics England's National Genomic Research Library. Currently, 84 individuals are diagnosed, but many remain undiagnosed. Estimates suggest one in 40,000 people may have the condition, highlighting its prevalence among neurodevelopmental disorders.
Read at www.bbc.com
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