New genetic variants linked to brain malformation

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New genetic variants linked to brain malformation
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More cases of children born with abnormal brain development may have genetic explanations than previously thought, according to a recent study published in JAMA Neurology.

JAMA NeurologyMore cases of children born with abnormal brain development may have genetic explanations than previously thought, according to a recent study published inPolymicrogyria, a condition characterized by the abnormal development of too many small folds in the brain before birth, can cause seizures, delayed development,or paralysis and a host of other complications, according to the National Institutes of Health.

"Traditionally, understanding the basis of brain malformation diseases has been challenging, as the gestational window is a 'Black Box' and the misfolded brain is not diagnosed until symptoms appear later," Smith said. In 90 of those families, or more than 30% of study participants, genetic variants were identified which explained polymicrogyria. The sequencing also identified novel variants in six genes which had not been previously linked to brain malformation: PANX1, QRICH1, SCN2A, TMEM161B, KIF26A and MAN2C1.

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Belgique Dernières Nouvelles, Belgique Actualités

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