Novel epilepsy phenotype associated with a pathogenic GABRG2 variant. Journal Articles

abstract

• None.

authors

• Hommady, Raid
• Pai, Vivek
• Zhai, Fay
• Deshwar, Ashish R
• Whitney, Robyn
• Sharma, Suvasini
• Jain, Puneet

status

• published 

publication date

• April 2025

has subject area

• 1103 Clinical Sciences (FoR)
• 1109 Neurosciences (FoR)
• 1701 Psychology (FoR)
• Adolescent (MeSH)
• Epilepsy (MeSH)
• Humans (MeSH)
• Male (MeSH)
• Neurology & Neurosurgery (Science Metrix)
• Phenotype (MeSH)
• Receptors, GABA-A (MeSH)

published in

• Seizure : the journal of the British Epilepsy Association  Journal

keywords

• Adolescent
• Drug-resistant epilepsy
• Epilepsy
• Epilepsy surgery
• Humans
• Male
• Mesial temporal sclerosis
• Phenotype
• Rasmussen encephalitis
• Receptors, GABA-A
• Whole exome sequencing

Digital Object Identifier (DOI)

• 10.1016/j.seizure.2025.03.007

PubMed ID

• 40121854

start page

• 101

end page

• 104

volume

• 127