CURE GABA-A

Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez
2024-02-09 10:00 - 11:00 (America/Los_Angeles)
Cure GABA-A | Recommended Physician Meet and Greet with Dr. Andres Jimenez Gomez

Join us for an educational meet and greet session with Dr. Andres Jimenez Gomez, MD, a Colombian-born physician with triple board certification in Pediatrics (Cincinnati Children’s Hospital), Pediatric Neurology, and Neurodevelopmental Disabilities (Texas Children’s Hospital).
Dr. Jimenez Gomez is currently the director of the Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital in South Florida. He is deeply invested in the care of children with neurogenetic and neurodevelopmental conditions, particularly Developmental and Epileptic Encephalopathies. His established clinical care and research trajectory focus on expanding awareness, standardizing diagnosis and care, and increasing education and awareness in the medical community about such conditions, with a special emphasis on Latin America and the predominantly Spanish-speaking population in the US.
Our NDD Program: The Neurodevelopmental Disabilities Program at Joe DiMaggio Children’s Hospital, directed by Dr. Jimenez Gomez, provides comprehensive, state-of-the-art, innovative, and humanistic care for children and young adults with neurodevelopmental disorders. The program offers multidisciplinary and comprehensive evaluations, incorporating elements of evidence-based care and complementary, holistic, patient- and family-centered practices unique to the region. Comprehensive developmental evaluations for autism, a multidisciplinary complex neurodevelopment/complex autism clinic, a multidisciplinary neuro-behavioral clinic, and a Developmental and Epileptic Encephalopathies (Genetic Epilepsies) clinic are among the services provided. The program actively participates in national clinical trials, offers Autism support groups, maintains a resource database, and provides an in-house network of therapists.
Our DEE Program: The Developmental and Epileptic Encephalopathies Clinic at Joe DiMaggio Children’s Hospital, under the leadership of Dr. Jimenez Gomez, provides comprehensive and multidisciplinary care for children and young adults with difficult-to-control epilepsy and associated developmental impairments such as developmental delay and autism. Full evaluations are conducted by board-certified pediatric epileptologists and a neurodevelopmental neurologist, alongside a pediatric geneticist, a neuropsychologist, and other advanced practice providers. The clinic offers services in epilepsy care as well as development and behavior, support in genetic consultation for resolution/analysis of Variants of Uncertain Significance (VUS), and referral when necessary for consultation for advanced epilepsy care, including ketogenic diet clinic and possible surgical interventions. The program also offers participation in clinical trials in the field.
Join Cure GABA-A and Dr. Andres Jimenez Gomez on 2/19/2024 10:00 AM PST for an educational and insightful session. For more details, contact us on our socials or email: info@curegabaa.org
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.

Cure GABA-A | Dr. Henry Lee | Understanding of GABAergic Signaling
2024-02-08 11:00 - 12:00
Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter

Cure GABA-A | Webinar | Understanding of GABAergic Signaling
Join us for an educational session with Dr. Henry Lee.
Dr. Henry Lee is a molecular neurobiologist with a specialized interest in comprehending the molecular processes governing neuronal inhibition, brain plasticity, and functional recovery within the context of brain development and trauma. Through the integration of molecular biology and electrophysiology techniques, Dr. Lee made a significant discovery highlighting the role of phosphorylation-dependent turnover of the potassium chloride co-transporter KCC2 in controlling Cl- mediated GABAergic inhibition (Lee et al., Nat Neurosci, 2011). Employing innovative genetic mouse models, he further investigated a paracrine signaling mechanism crucial for critical period (CP) plasticity control (Spatazza, Lee et al., Cell Rep, 2013; Lee et al., Mol Psychiatry, 2017).
Dr. Lee’s translational research extends to the realm of functional recovery post-nerve damage (Bei, Lee et al., Cell, 2016) and traumatic brain injury (Hsieh, Lee et al., Cerebral Cortex, 2016). His recent focus centers on SSADH deficiency, a rare inborn GABA metabolic disorder. Dr. Lee is actively engaged in the development of a specialized mouse tool for SSADH, allowing ‘on-demand’ SSADH restoration. This endeavor is directed towards contributing to the preclinical advancement of innovative therapies for SSADH deficiency.
Join Cure GABA-A and Dr. Henry Lee on February 8th, 2024, at 11:00 PM PST for an educational session. For more details, contact us on our socials or email: monica@cureGABAa.com.
Can’t make it in person? Don’t worry – This session will be recorded and uploaded to the Cure GABA-A YouTube channel for your convenience.

Join us in our collective mission to improve the lives of patients with GABA-A Variants and work toward a brighter future.

Cure GABA-A | Educational Session | Importance of overnight EEG monitoring
2024-02-05 11:00 - 12:00
The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment

Join us as Brad Levy from EEG2GO, will share his incredible journey into the world of epilepsy and discuss “The Importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment.”
In 2005, Brad had no prior medical experience until his daughter’s sudden onset seizures and epilepsy diagnosis. He founded the Epilepsy Awareness Day at Disneyland, which has grown into a significant annual event. This year’s event expected participation from around 100 epilepsy support groups and 2,000 individuals.
Driven by his passion for the Autism community, Brad took on the challenge of creating an ideal EEG equipment and protocol in collaboration with Lifelines Neurodiagnostics and Dr. David Millett in 2015. He actively seeks out well-trained epilepsy specialists to enhance their referral network and speaking roster at the EAD Expo.
Today, Brad’s service offers patients an alternative to hospitals and inpatient EEG services, focusing on comfort and data collection efficiency.
Join us as Brad highlights the importance of overnight EEG monitoring when tracking genetic epilepsy and assessing the efficacy of treatment.
Can’t attend in person? No problem! This session will be recorded and available on our Cure GABA-A YouTube channel for your convenience.
Join us in our collective mission to improve the lives of patients with GABA-A Variants and work towards a brighter future.

Cure GABA-A | Family Presentation with Dr. Nazanin Azarinejad Mohammadi
2024-01-29 10:00 - 11:00
Unraveling GOF vs LOF GABRB2 Disease: Insights from Dr. Mohammadi’s Research

Join us for an educational session with Dr. Nazanin Azarinejad Mohammadi, who recently defended her PhD thesis entitled “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” on 18.01.2024.
Under the guidance of Prof. Rikke S. Møller and Assoc. Prof. Philip K. Ahring, Dr. Mohammadi’s groundbreaking research has unraveled the complexities of GOF (gain-of-function) vs LOF (loss-of-function) GABRB2 disease.
In her studies, Dr. Mohammadi demonstrated, for the first time, that GABRB2 variants can lead to both GOF and LOF GABAA receptors, with the associated phenotypes strongly linked to the functional outcome. Notably, patients in the GOF group exhibited more severe phenotypes than those in the LOF group.
Additionally, the research revealed that M1 proline substitutions in GABRA1, GABRB2, GABRB3, or GABRG2 all result in GOF receptors, indicating a subunit-independent functional effect. Patients with these variants displayed similar severe phenotypes, aligning with their receptor function.
Dr. Mohammadi’s groundbreaking findings shed light on the intricate nature of genetic variants in the GABAA receptor, showing their association with severe epilepsy and their ability to either decrease or increase the GABA sensitivity of the receptor. This discovery not only enhances genetic counseling for patients but also lays the foundation for the development of personalized treatment strategies.
Join Cure GABA-A and Dr. Nazanin Azarinejad Mohammadi on 1/29/2024 at 10:00am PST for an insightful exploration of GOF vs LOF GABRB2 disease. For more details, contact us on our socials or email: .
If you are unable to attend in person, rest assured – the session will be recorded and made available on the Cure GABA-A YouTube channel for your convenience.

Join us in our shared mission to enhance the lives of patients with GABA-A Variants and contribute to a brighter future.
