Researchers at the University of North Carolina School of Medicine may have been able to zero in on what causes the seizures in patients that have Angelman syndrome (AS), a neurodevelopmental disorder.
This study, which was published in the journal Neuron, was led by Benjamin D. Philpot, a professor of cell and molecular physiology at UNC. Philpot used this study as a means of describing how seizures in patients with AS could be linked to an activity imbalance in certain brain cells. Philpot says, “Our study indicates that a common abnormality that may apply to many neurodevelopmental disorders is an imbalance between neuronal excitation and inhibition.”
Many different genetic disorders (Fragile X, Rett syndrome, etc.), have been correlated with this imbalance. As in the case of AS, these conditions can also be linked to autism. Angelman syndrome is often misdiagnosed as cerebral palsy, and is characterized by seizures, cognitive delays, severe intellectual disability, lack of speech and problems with motor balance. The most common genetic defect that is linked to the condition is “the lack of expression of the maternally inherited allele of gene UBE3A on chromosome 15.” This loss has also been associated to a “decreased release of an excitatory neurotransmitter which increases the activity of other neurons.” However, that assumption has seemed to go against the large amount of seizures that AS patients experience. This study is expected to help make things clear.
For this study, Philpot and his team explored the neurocircuitry of Angelman syndrome by using mice models. The mice in the study behave in ways that are very similar to people who have AS and seizures. The researchers recorded the excitatory and inhibitory activity from each neuron using electrophysiological methods. This included using precise recording electrodes, and microscopic tips that are attached to individual neurons. “In this way you can record from precise neuron types and tell which neuron you’re recording from and what its activity is,” explained Philpot. “You can stimulate it to drive other neurons and also record the activity of other neurons onto it.”
Anti-seizure medications like Topamax are often used to help epileptic patients and patients who experience seizures. The problem with this is that Topamax has also been linked to various adverse side effects including birth defects in babies whose mothers took the drug while pregnant. Some of those birth defects include PPHN, oral clefts, cleft palate, spina bifida and neural defects.
If your child was born with birth defects and you have taken Topamax, contact attorney Greg Jones today for a free consultation. I am experienced at fighting Topamax lawsuits and may be able to help you recover money for your child’s injuries.
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