2021
Small loci of astroglial glutamine synthetase deficiency in the postnatal brain cause epileptic seizures and impaired functional connectivity
Farina MG, Sandhu MRS, Parent M, Sanganahalli BG, Derbin M, Dhaher R, Wang H, Zaveri HP, Zhou Y, Danbolt NC, Hyder F, Eid T. Small loci of astroglial glutamine synthetase deficiency in the postnatal brain cause epileptic seizures and impaired functional connectivity. Epilepsia 2021, 62: 2858-2870. PMID: 34536233, PMCID: PMC9006438, DOI: 10.1111/epi.17072.Peer-Reviewed Original ResearchConceptsPostnatal brainFunctional connectivityContinuous video-electroencephalographic recordingSpontaneous recurrent seizuresPathogenesis of epilepsyGlutamine synthetase deficiencyVideo-electroencephalographic recordingsSpecific animal modelsEx vivo studySeizure thresholdAdult patientsRecurrent seizuresFocal epilepsyAdeno-associated virusHippocampal formationAnimal modelsFocal mannerEpileptic seizuresGS deficiencySmall lociSynthetase deficiencyEpilepsyGradual returnVivo studiesBrain
2019
Branched-Chain Amino Acids and Seizures: A Systematic Review of the Literature
Gruenbaum SE, Chen EC, Sandhu MRS, Deshpande K, Dhaher R, Hersey D, Eid T. Branched-Chain Amino Acids and Seizures: A Systematic Review of the Literature. CNS Drugs 2019, 33: 755-770. PMID: 31313139, DOI: 10.1007/s40263-019-00650-2.Peer-Reviewed Original ResearchConceptsGenetic absence epilepsyBCAA supplementationAbsence epilepsyAnimal modelsBranched-chain amino acid supplementationSystematic reviewLong-term BCAA supplementationEpilepsy experience seizuresAnti-seizure effectsEffect of BCAAMost animal modelsPossible underlying mechanismsAmino acid supplementationChain amino acidsBCAA administrationBCAA mixtureRefractory epilepsyNeuron lossSeizure disorderAntiepileptic drugsSeizure modelSeizure propagationCochrane LibrarySeizure activityKainic acid