Sentences with phrase «genetic epilepsy syndromes»

Not exact matches

In a test of this theory, researchers have demonstrated that mice harboring a human SCN1A gene mutation that results in Dravet Syndrome (DS), a severe and intractable genetic epilepsy, have electrical disturbances in the heart that culminate in ventricular fibrillation and sudden cardiac death.

Scientists used CRISPR - Cas9 to shed light on why people with 15q13.3 microdeletion syndrome — a rare human genetic disorder — are more likely to develop brain disorders like autism spectrum disorder, epilepsy and schizophrenia (Karun K. Singh, abstract 103.05, see attached summary).

Using a novel combination of technologies, including trio exome sequencing of patient / parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome — a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

Importantly, the development of a new animal model for Dravet syndrome based on reduced CHD2 expression might help to find effective treatments that could improve the lives of thousands of people suffering from Dravet syndrome and perhaps other genetic epilepsies.»

Dravet syndrome is one of the most challenging forms of childhood epilepsy, resulting from a specific genetic mutation that affects sodium channels in the brain.

Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome.

Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.

The stem cells actually started out as skin cells donated by patients with Dravet syndrome, a severe form of childhood epilepsy — so they carry the genetic defect that causes that disease.

For the trial, researchers enrolled 120 children from 2 to 18 years old with Dravet syndrome, a rare genetic form of epilepsy that kills up to 20 percent of patients by the time they are 20.

We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well - recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus.

For example, a study conducted in his own lab found that forebrain assembloids generated from patients with Timothy syndrome — a genetic disease associated with autism and epilepsy, showed abnormal migration of GABAergic neurons during the development of the cerebral cortex.

Inclusion criteria for the current study were: European Caucasian descent, IQ ≥ 80, no diagnosis of conduct disorder, autism, anxiety disorder, depression, epilepsy, general learning difficulties, neurological disorders or known genetic disorders (e.g. Fragile X syndrome, Down syndrome).