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Recommended Physicians

California

Florida

Massachusetts

New York

Pennsylvania

Tenessee

Denmark

 In our relentless pursuit of providing the Cure GABA-A community with top-notch care from specialists focusing on GABA-A variants, we’ve curated a list of recommended doctors. This roster is continually expanding, with two additional centers currently in the pipeline.

If you’re aware of additional physicians deserving consideration, please don’t hesitate to reach out to us. 

Navigating the complexities of GABA-A variants demands specialized care and insight for the well-being of your child and family. Our GABA-A specialists possess a profound understanding of diagnostic criteria and are unwaveringly dedicated to addressing the diverse needs associated with GABA-A variants. They confront the unique challenges presented by GABA-A variants, ensuring comprehensive and tailored support. 

Choosing a GABA-A specialist is not only beneficial for Natural History Data collection but also connects you with experts actively engaged in Cure GABA-A scientific monthly meetings. This involvement keeps them abreast of the latest scientific advances directly correlated with GABA-A variants. Rest assured that your journey with GABA-A variants aligns with the forefront of scientific knowledge and progress. 

The following physicians may also act as consultants for families in the clinic, encouraging them to maintain an active relationship with their local treating teams. The role of these physicians is to offer guidance, coaching, and potential recommendations depending on the clinical scenario.

 

Denmark

Dr. Sebastian Ortiz

Dr. Sebastian Ortiz

Pediatric Neurologist and Epileptologist

Sebastian is presently engaged in a comprehensive examination of the phenotypic manifestations observed in individuals possessing GABAAR variants. His aim is to enhance comprehension of the intricate networks and systems implicated in the pathophysiology of these disorders. Additionally, he endeavors to equip clinicians with tools facilitating the early identification of these disorders.

Sebastian is actively engaged in international epilepsy communities, serving as the Chair of the Young Epilepsy Section from International League Against Epilepsy (ILAE) from September 2023 to September 2025. His contributions to various international congresses, including the International Epilepsy Congress and Latin American Epilepsy Congress, reflect his dedication to advancing knowledge in his field.

A multilingual professional, Sebastian is fluent in Portuguese, Spanish, English, and has a basic proficiency in French and Danish. He is a member of prestigious associations such as the Danish Epilepsy Society, International League Against Epilepsy (ILAE), American Academy of Clinical Neurophysiology.

Make an Appointment

For appointments please email info@curegabaa.org

California, USA 

Dr. Juliet Knowles

Dr. Juliet Knowles

Assistant Professor of Neurology (Pediatric Neurology) and of Pediatrics

Juliet Knowles, MD PhD, is an Assistant Professor at Stanford University. Her basic, translational
and clinical research lab focuses on mechanisms underlying pediatric epilepsy. Her research
group is particularly interested in generalized epilepsies, monogenic epilepsies and
developmental and epileptic encephalopathies. Most recently, the Knowles lab demonstrated
an unexpected contribution of activity-dependent myelination to generalized epilepsy
progression (J.K. Knowles et al, Nature Neuroscience, 2022). The Knowles lab is now
investigating whether similar mechanisms occur in multipe forms of genetic epilepsy, including
GABA-A related epilepsy. Dr. Knowles is also a clinician who provides specialty care for children
with genetic and difficult-to-treat forms of epilepsy.

Make an Appointment

For appointments please email info@curegabaa.org

Massachusetts, USA

Dr. Alexander Rotenberg

Dr. Alexander Rotenberg

Professor of Neurology, Harvard Medical School

Alexander Rotenberg is a prominent neurologist and epileptologist, serving as the Director of the Neuromodulation Program within the Department of Neurology. He has received recognition for his work, including the 2016 Dreifuss-Penry Epilepsy Award from the American Academy of Neurology and presidency of the Greater Boston Epilepsy Society in 2015-2016.

Dr. Rotenberg leads efforts to adapt noninvasive brain stimulation techniques like TMS and tDCS for pediatric epilepsy patients, while also overseeing basic science experiments exploring their translational applications in epilepsy and traumatic brain injury models. His ongoing research includes clinical trials testing the efficacy of brain stimulation in drug-resistant seizures, studies on human brain plasticity in autism.

Make an Appointment

For appointments please email info@curegabaa.org

New York, USA

Dr. Zachary Grinspan

Dr. Zachary Grinspan

Associate Professor of Pediatrics, Pediatric Neurologist

Dr. Zachary Grinspan is the director of the pediatric epilepsy program at Weill Cornell Medicine and the NewYork-Presbyterian Komansky Children’s Hospital. He earned his undergraduate degree from Yale University and his medical degree from Albert Einstein College of Medicine. With board certifications in Pediatrics and Neurology with Special Qualification in Child Neurology, Dr. Grinspan completed his training with residencies in Pediatrics and child neurology, as well as a fellowship in Clinical Neurophysiology. His post-doctoral research focused on quality of care and clinical informatics at Weill Cornell Medicine, supported by the National Institutes of Health Neurologic Science Academic Development Award (NIH NSADA)

Make an Appointment

For appointments please email info@curegabaa.org

Pennsylvania, USA

Dr. Pamela Pojomovsky McDonnell

Dr. Pamela Pojomovsky McDonnell

Pediatric Neurologist

Pamela Pojomovsky McDonnellMD, is a pediatric neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). She specializes in helping children with epilepsy. Dr. McDonnell had a personal reason for choosing her specialty.

“My sister had epilepsy when she was a child, which made me want to help children and families with neurologic conditions,” she says. “I later developed an interest in science and particularly in how the brain works.” She notes that although epilepsy affects just 1% of the population, it’s morbidity is quite high. Fortunately, many tools are available to help control the disorder. A native of Argentina, Dr. McDonnell enjoys working with Spanish speakers who may otherwise have trouble accessing appropriate care due to language barriers. Along with her clinical work, she is an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania. 

Dr. McDonnell is enthusiastic about new developments in genetics that may one day allow doctors to predict the course of epilepsy and target treatments accordingly. She is a member of the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP), where she evalutes all children with neurodevelopmental disorders with or without epilepsy but she  has a specific focus in children with pathogenic variants in the SLC6A1 gene and works closely with the SLC6A1 Connect group.

When caring for children, Dr. McDonnell is reminded of her sister and the comfort of knowing medical professionals were helping to manage her epilepsy. “I am always inspired by the doctors that helped our family,” she says. “And as your doctor, I care about your child and your family as if they were my own. I hope that is an experience that can be taken from every visit at CHOP.”

Make an Appointment

For appointments please email info@curegabaa.org

Tennessee, USA

Dr. Robert Carson

Dr. Robert Carson

PhD, Pediatric Neurologist and Epileptologist

Robert Carson MD PhD, is a pediatric neurologist and epileptologist at the Monroe Carell Jr. Children’s Hospital at Vanderbilt in Nashville Tennessee.

He has had a long-standing interest in neurodevelopmental disorders for which epilepsy is a key manifestation.

Dr. Carson has directed the Angelman and Dup15q syndrome clinics at Vanderbilt since 2019 and the Tuberous Sclerosis Complex clinic since the fall of 2023.

He has additional clinical interests focused on identifying novel treatment approaches for drug-resistant monogenetic epilepsy syndromes, with a particular interest in drug repurposing.

Make an Appointment

For appointments please email info@curegabaa.org

Florida, USA

Dr. Andres Jimenez Gomez

Dr. Andres Jimenez Gomez

Pediatrician, Pediatric Neurology, and Neurodevelopmental Disabilitie

Colombian-born physician with triple board certification in Pediatrics (Cincinnati Children’s Hospital), Pediatric Neurology, and Neurodevelopmental Disabilities (Texas Children’s Hospital). 
Currently director of the Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital in South Florida. 
I am invested in the care for children with neurogenetic and neurodevelopmental conditions, particularly Developmental and Epileptic Encephalopathies. in this, I have an established clinical care and research trajectory focused at expanding awareness, standardizing diagnosis and care, and increasing education and awareness in the medical community about such conditions. I am particularly passionate about pursuing this for Latin America and the predominantly spanish-speaking population in the US.
Make an Appointment

For appointments please email info@curegabaa.org