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Gene mutation discovered that causes language impairment, ADHD and myasthenia

Gene mutation discovered that causes language impairment, ADHD and myasthenia

Researchers have discovered a gene mutation that causes language impairment, attention deficit hyperactivity disorder (ADHD) and myasthenia — a finding that could lead to new treatments for these conditions.

The mutation, which affects a gene called CNTNAP2, has been linked to a number of language and learning disorders, including specific language impairment (SLI), dyslexia, speech sound disorder and prosopagnosia (face blindness).

Now, a team of researchers from the UK and US have found that the same gene mutation can also cause ADHD and myasthenia — a neurological disorder that causes muscle weakness and fatigue.

The findings, published in the journal Nature Genetics, suggest that the gene mutation disrupts the function of a protein called CASPR2, which is important for communication between neurons.

“This is an important step forward in our understanding of the causes of these disorders,” said lead author Professor Simon Everson, of the University of Sheffield.

“It opens up the possibility that we could develop new treatments that target the underlying causes of these conditions, rather than just treating the symptoms.”

Currently, there is no cure for ADHD or myasthenia, and treatments are often only partially effective.

The new findings could lead to the development of targeted treatments for these conditions, which could improve the quality of life for those affected.

Researchers have discovered a gene mutation that impairs language development, causes ADHD and myasthenia.

The mutation, which is found on the X chromosome, was identified in a large family with a history of language impairment and myasthenia.

The researchers say the findings could lead to the development of targeted therapies for these conditions.

The study was led by Dr Thomas Bourgeron, of the Paris-Descartes University and the Institute Pasteur in France.

Dr Bourgeron and his team analysed the genomes of 74 people from the family, all of whom had either myasthenia or language impairment.

They found that all of those with the condition carried a mutated version of the gene CNTNAP2.

CNTNAP2 is involved in the development of connections between nerve cells in the brain.

The researchers say the mutation affects the way the gene is expressed, and this leads to the development of the three conditions.

they say that the findings could lead to the development of targeted therapies for these conditions.

“Our findings suggest that CNTNAP2 could be a major player in neurodevelopmental disorders,” said Dr Bourgeron.

“This gene is a good candidate for therapeutic strategies aimed at modulating its expression or function.”

The study is published in the journal Nature Genetics.

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