Authors :
Presenting Author: David Lardizabal, MD, MBA, FAAN – Charleston Area Medical Center/Vandalia Health
Rationale: We present a case of a 21-year-old male with intractable epilepsy and developmental delays associated with the NM_024496.3 c.364 C >T p.(Q122*) mutation. This mutation may represent the first reported case of its kind, highlighting the need for genetic testing in idiopathic epilepsy.
Methods:
The patient underwent thorough clinical evaluation and was subjected to whole exome sequencing to identify potential genetic causes of his condition. Multiple seizure types were documented, including generalized motor seizures and photosensitivity, which were resistant to conventional treatments.
Results: Whole exome sequencing identified the NM_024496.3 c.364 C >T p.(Q122*) mutation, which may impact the gamma-aminobutyric acid (GABA) neurotransmitter system. Despite various treatment approaches, the patient's seizures remained intractable.
Conclusions: This case underscores the importance of genetic testing in diagnosing idiopathic epilepsy and highlights the complexity of managing intractable seizures. The identification of the NM_024496.3 c.364 C >T p.(Q122*) mutation may provide a pathway for future research and potential targeted therapies.
Funding: None