Department: Human Molecular Genetics
Faculty: Faculty of Medical & Health Sciences
Tel Aviv University

Dr. Rubinstein Moran

The Molecular Basis of Epileptic Encephalopathies and Autism

We study the neuronal and molecular basis of visual system abnormalities in severe epilepsy and autism. One out of every 68 children is diagnosed with an autism spectrum disorder, characterized by impaired social skills. Moreover, autistic features are observed in people suffering from epileptic encephalopathies, a group of severe disorders characterized by refractory seizures and cognitive deficit with limited treatment options and poor prognosis.

Visual system abnormalities are often observed in both disorders, ranging from lack of eye contact, through abnormal visual processing, to photosensitive seizures. The tremendous advancement in genetic studies helped to identify the involvement of many genes in the etiology of epilepsy and autism. However, our understanding of the pathways leading from a genetic mutation to abnormal brain function is still in its infancy. Ion channels are molecular machines, crucial for transforming synaptic inputs into electrical response, controlling neuronal firing and neurotransmitter release. One of the pivotal families of ion channels are the voltage-gated sodium channels (NaV). Indeed, mutations in multiple types of NaV channels were identified in epilepsy and autism patients. However, connecting the dots between NaV dysfunction and the resulting diseases have proven to be a formidable task.

In order to bridge this gap we harness the strength of mouse genetics, combined with electrophysiological recordings, to elucidate the molecular and neuronal basis of epilepsy and autism and to understand how genetic mutations in ion channels leads to these disorders. We use mouse models mimicking the human genetic mutation and unveil perturbations of neuronal function on cellular, network and behaving animal levels. Moreover, the contribution of different classes of neurons and different brain regions is tested using global and viral mediated localized selective genetic deletions. Finally, behavioral experiments are used to examine epilepsy, sociability and the function of the visual system.

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