Pediatric Neurogenetics Clinic

At our pediatric neurogenetics clinic, families and their children undergo examination, diagnostic testing, genetic counseling and long-term care for their disorders by an experienced and compassionate staff. We utilize state-of-the-art techniques in neurodiagnostic testing, including magnetic resonance imaging (MRI), electromyography (EMG), nerve conduction velocity test (NCV), electroencephalogram (EEG) and muscle ultrasound and biopsy. We also use genetic investigations, such as chromosomal microarrays, exome sequencing and whole genome sequencing, to determine the cause of the disease. Our neurogenetics clinic offers leading-edge clinical trials to patients for expanded diagnostic and treatment options. Other common associated findings with these disorders, including epilepsy and developmental delay, are evaluated and treated by our expert team.

As we work towards providing an accurate diagnosis, we may refer your child to other Cedars-Sinai pediatric subspecialists familiar with neurogenetic diseases, including neurosurgeons, orthopaedic surgeons, ophthalmologists, pulmonologists and cardiologists. We work closely in collaboration with the Cedars-Sinai Charcot-Marie-Tooth and Muscular Dystrophy Association Clinics as well as the Center for the Undiagnosed Patient (CUP).

For select diagnoses or established patients, we may coordinate multidisciplinary telemedicine services. Because many of the disorders that we diagnose are extremely rare, we also collaborate with researchers at Cedars-Sinai and other institutions around the world to gain further insight into the cause of these disorders and how to best treat them.