2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL, Helbig I, von Spiczak S, Baulac S, Barisic N, Balling R, Caglayan H, Craiu D, Guerrini R, Klein K, Marini C, Muhle H, Rosenow F, Serratosa J, Sterbova K, Weber Y, Moslemi A, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain 2020, 143: 1447-1461. PMID: 32282878, PMCID: PMC7241960, DOI: 10.1093/brain/awaa085.Peer-Reviewed Original ResearchConceptsEpileptic encephalopathyJoint contracturesSeizure onsetCleft palateMonths of lifePost-neonatal periodYears of ageBi-allelic lossΓ-aminobutyric acid (GABA) metabolismEnzyme GAD67Epileptic spasmsEarly EEGEpilepsy syndromesMyoclonic seizuresEarly-onset epilepsy syndromeDisease historyPes equinovarusPatientsNovel syndromeEncephalopathyBurst attenuationIndependent consanguineous familiesFirst monthTherapeutic hopeFunction variants
2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis