I am a clinical geneticist and a pediatrician with a deep interest in undiagnosed and rare genetic disorders. I provide medical care for children and adults with chromosome 22q11.2 deletion syndrome and diagnostic evaluation for patients with symptoms and signs of genetic disorders, when evaluations have not provided a specific diagnosis. Dr. Shashi is rated as a Distinguished provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are DiGeorge Syndrome, Hypotonia, Immune Defect due to Absence of Thymus, and Micrognathia.

Priya Kishnani is a Pediatrics provider in Durham, North Carolina. Dr. Kishnani is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 3, Hypophosphatasia (HPP), Glycogen Storage Disease Type 9, and Splenectomy. Dr. Kishnani is currently accepting new patients.

Clara Hildebrandt is a Pediatrics specialist and a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Hildebrandt is rated as an Advanced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Ring Chromosome 18, Hypotonia, Chromosome 18p Deletion, Blepharophimosis, and Gastrostomy. Dr. Hildebrandt is currently accepting new patients.

Kathleen Kaiser-Rogers is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Kaiser-Rogers is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Trisomy 13, Chromosome 13q Duplication, Mosaicism, and Hypotonia.

Steven Trau is a Pediatric Neurologist and a Neurologist in Chapel Hill, North Carolina. Dr. Trau is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Dopa-Responsive Dystonia, Transient Tic Disorder, Tourette Syndrome, and Primary Lateral Sclerosis.

Matthew Vogt is a Pediatric Infectious Disease specialist and a Pediatrics provider in Chapel Hill, North Carolina. Dr. Vogt is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top area of expertise is Hypotonia. Dr. Vogt is currently accepting new patients.

Arthur Aylsworth is a Pediatrics provider in Chapel Hill, North Carolina. Dr. Aylsworth is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Arthrogryposis Multiplex Congenita, Hypochondroplasia, Micrognathia, and Early Infantile Epileptic Encephalopathy.

Maria Escolar is a Pediatrics provider in Chapel Hill, North Carolina. Dr. Escolar is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome).

Hiba Risheg is a Medical Genetics provider in Chapel Hill, North Carolina. Dr. Risheg is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Angelman Syndrome, Autism Spectrum Disorder, Hypotonia, and Intrauterine Growth Restriction.

I see patients with mitochondrial and lysosomal storage diseases, developmental delay, intellectual disability, chromosomal disorders, congenital defects, short stature, failure to thrive, and adult genetic disorders. I love the application of rapidly growing genetic knowledge to treat patients with a variety of medical problems that involve a complex interaction of genetic and environmental factors, particularly since the Human Genome Project. I find it fascinating to use the massive power of sequencing technology and artificial intelligence/machine learning to predict phenotypes from genotypes with increasing clinical relevance to human health. In my spare time, I like to hike and play sports with my wife and teenage sons, play piano, and learn famous Russian poetry of the 19th century. I see patients in person and through telehealth. Dr. Niyazov is rated as an Advanced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Early Infantile Epileptic Encephalopathy, Macroglossia, Ehlers-Danlos Syndrome (EDS), and Microcephaly.

I find joy and satisfaction in my dedication to the care of children with rare diseases specifically: genetic disorders and inherited disorders of metabolism. Due to many years of training and practice, I have experience involving care of patients with a variety of genetic and metabolic conditions, including but not limited to glycogen storage diseases, fatty acid oxidation defects, mitochondrial disorders, lysosomal storage diseases, urea cycle disorders, organic acidurias, aminoacidopathies, and infantile hepatopathy due to LARS mutations, etc. I enjoy working together with children and their parents, whom I consider an important part of the team. I pursued this field because it gives me great satisfaction and pleasure to see the children with these conditions grow, and the patients and families feel cared for, and not isolated. I love learning about the children's interests, and see that they grow happy and healthy. I think out of the box when there is a challenge that needs to be met for the patient's care and management. Dr. Hassan is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Von Gierke Disease, Mitochondrial Trifunctional Protein Deficiency, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, and Micrognathia.

Joan Jasien is a Pediatrics provider in Durham, North Carolina. Dr. Jasien has been practicing medicine for over 21 years and is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Alternating Hemiplegia of Childhood, Hypotonia, Neurogenic Bowel, and Achalasia Microcephaly Syndrome.

I have dedicated my professional life to treating patients with neuromuscular disorders. These include neuropathy (GBS, CIDP), myopathy, Myasthenia Gravis, and ALS. I incorporate the use of electromyography (EMG), whenever appropriate, to help diagnosis my patients and start proper therapy. My greatest satisfaction as a doctor is helping patients improve and forming lasting relationships. I want my patients to feel like they are not alone navigating their disease and know I will be there for them every step of the way. Duke Health is truly a world-class institution. Dr. Mayberry is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Stiff Person Syndrome, Mitochondrial Complex 1 Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Mitochondrial Trifunctional Protein Deficiency.

With over 15 years of experience in the field of electroencephalography, epilepsy diagnosis, and the management of people with drug-resistant epilepsy, I serve as the Director of the Duke Comprehensive Epilepsy Center. My responsibilities also encompass overseeing the Analytical Neurophysiology Lab, which focuses on advancing the field of neurophysiology to more accurately localize epileptic foci in patients with drug-resistant epilepsy, employing state-of-the art signal analysis techniques integrated with artificial intelligence. The ultimate aim of this endeavor is to optimize treatment efficacy through individually tailored approaches, thereby enhancing the quality of life in people with epilepsy. Central to my approach is the concerted effort to assemble a highly collaborative team to achieve the best possible outcome for each patient. To do so, I also strive to integrate the latest innovative developments in the field into patient care, ensuring the highest treatment standards in our field. Dr. Frauscher is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Epilepsy, Restless Legs Syndrome, Seizures, and REM Behavior Disorder.

My practice includes caring for children and adults with inherited conditions, such as inherited disorders of metabolism, genetic syndromes, mitochondrial disorders, inherited causes of growth failure or developmental delay, and conditions detected by newborn screening. My clinic works with the Pediatric Biochemical Genetics Laboratory to diagnose these conditions. We provide treatment for inherited disorders of metabolism. I work closely with the geneticists, neurologists, pediatricians, internists, and other providers at Duke University Medical Center to provide comprehensive care for my patients. My research has been aimed at developing new treatments for inherited conditions, focusing on glycogen storage diseases, like Pompe disease and von Gierke disease. We have developed gene therapy for these conditions and are in the process of starting clinical trials to test safety and benefits. Dr. Koeberl is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Pompe Disease, Von Gierke Disease, X-Linked Creatine Deficiency, and Kearns-Sayre Syndrome.

I’m a pediatric neurologist and chief of pediatric neurology at Duke. My specialty is pediatric epilepsy. It’s extremely rewarding to treat a child because you are changing the life of not only the patient but also of their family. The most important thing in treating a patient is listening and forming a connection. You have to know where the patient and the family are coming from. By listening and observing, I can better understand their needs and then apply the most advanced knowledge and technologies to help them. There is a lot of patient education that goes on and it’s very important and most delightful to do that in close partnership and alliance with the family particularly in an often complex disorder like childhood epilepsy. Outside of work, I enjoy classical music, reading, biking, jogging and traveling, but what I truly enjoy most of all is taking care of patients. Dr. Mikati is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Alternating Hemiplegia of Childhood, Epilepsy in Children, Wolf-Hirschhorn Syndrome, and Increased Head Circumference.

Because of my family experiences I was drawn into the field of medicine early in my life. One of my close family members suffered from epilepsy since she was very young. I witnessed the adverse effect of epilepsy on socio-economic, education and quality of life of not just the patient, but the entire family. I learned that a doctor’s job is not only to prescribe medication but also provide education, counseling, and support when dealing with diseases like epilepsy. My two young children keep my wife and I active and on our toes. We take them hiking, camping, swimming, and any other outdoor activities possibly available that keeps them busy and promises a full night’s sleep. I enjoy woodworking and wood carving in my free time and enjoy seeing raw wood transformed into a useful daily accessory or an artistic gift. Dr. Zafar is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Seizures, Epilepsy, Dravet Syndrome, and Generalized Tonic-Clonic Seizure.

Carolyn Pizoli is a Pediatrics specialist and a Pediatric Neurologist in Durham, North Carolina. Dr. Pizoli is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Childhood Disintegrative Disorder, West Syndrome, Lennox-Gastaut Syndrome (LGS), and Arthrogryposis Multiplex Congenita. Dr. Pizoli is currently accepting new patients.

Edward Smith is a Pediatrics provider in Durham, North Carolina. Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Hypotonia. His top areas of expertise are Pompe Disease, Muscle Atrophy, Hereditary Ataxia, and Delayed Growth. Dr. Smith is currently accepting new patients.

Gail Spiridigliozzi is a Pediatrics provider in Durham, North Carolina. Dr. Spiridigliozzi is rated as an Experienced provider by MediFind in the treatment of Hypotonia. Her top areas of expertise are Pompe Disease, X-Linked Creatine Deficiency, Hypotonia, and Developmental Dysphasia Familial. Dr. Spiridigliozzi is currently accepting new patients.