Litcius/Paper detail

The de novo <i>GABRA4</i> p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits

Philip K. Ahring, Vivian W. Y. Liao, Susan X. N. Lin, Nathan L. Absalom, Mary Chebib, Rikke S. Møller

2022Epilepsia15 citationsDOI

Topics & Concepts

EpilepsyGain of functionIntractable epilepsyPsychologyPediatricsNeuroscienceMedicineGeneticsPhenotypeBiologyGeneMitochondrial Function and PathologyCellular transport and secretionNeuroscience and Neuropharmacology Research
The de novo <i>GABRA4</i> p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits | Litcius