A multidisciplinary team describes a new syndrome caused by mutations in the gene CACNA1E
A wide international team formed by American, Europeans, Chinese, New Zealanders, and Australians researchers demonstrated certain mutations in a gene called CACNA1E are the cause of a syndrome marked by developmental and epileptic encephalopathies (DEEs), macrocephaly (size of the head superior to the average) and dyskinesias (hyperkinetic movement disorders). The American Journal of Human Genetics published this research work in which the scientists, using next-generation sequencing techniques, explained how they identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, and hyperkinetic movement disorders.
The gene CACNA1E is a part of a protein encoding the transmission of the electric impulse in the central nervous system. The scholars observed some variants were altering and intensifying the function of the resultant protein: this situation helped to block its inactivation. In other cases, the protein was activated more rapidly and the density of the electrical impulses increased. The scientists affirmed that these changes in protein role can be the reason of the symptomatology observed in the sample of patients.
In the work, they tested also the use of topiramate, an anti-epileptic medicament. They noticed the epileptic seizures were disappearing in 5 of the participants. Taking into account the limited number of patients participating in the clinic test and the positive effect in a small number of the same, future lines of research will be necessary to study the therapeutic possibilities linked with the newly described syndrome.
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias | The American Journal of Human Genetics