Happ HC, Carvill GL (2020) A 2020 view on the genetics of developmental and epileptic encephalopathies. Epilepsy currents 20(2):90–96. https://doi.org/10.1177/153575972090611

Article  PubMed  PubMed Central  Google Scholar 

Ramadan W, Patel N, Anazi S, Kentab A, Bashiri F, Hamad M et al (2017) Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. Clin Genet 92(3):327–331. https://doi.org/10.1111/cge.12999

Article  CAS  PubMed  Google Scholar 

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS et al (2003) Human gene mutation database (HGMD®): 2003 update. Hum Mutat 21(6):577–581. https://doi.org/10.1002/humu.10212

Article  CAS  PubMed  Google Scholar 

Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S et al (2016) ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 44(D1):D862–D868. https://doi.org/10.1093/nar/gkv1222

Article  CAS  PubMed  Google Scholar 

Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812–3814. https://doi.org/10.1093/nar/gkg509

Article  CAS  PubMed  PubMed Central  Google Scholar 

Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 31(16):2745–2747. https://doi.org/10.1093/bioinformatics/btv195

Article  CAS  PubMed  PubMed Central  Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. https://doi.org/10.1038/nmeth0410-248

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11(4):361–362. https://doi.org/10.1038/nmeth.2890

Article  CAS  PubMed  Google Scholar 

Ashkenazy H, Abadi S, Martz E, Chay O, Mayrose I, Pupko T et al (2016) ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules. Nucleic Acids Res 44(W1):W344–W350. https://doi.org/10.1093/nar/gkw408

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karolchik D, Baertsch R, Diekhans M, Furey TS, Hinrichs A, Lu Y et al (2003) The UCSC genome browser database. Nucleic Acids Res 31(1):51–54. https://doi.org/10.1093/nar/gkg129

Article  CAS  PubMed  PubMed Central  Google Scholar 

Esmaeilzadeh-Gharehdaghi E, Razmara E, Bitaraf A, Mahmoudi M, Garshasbi M. (2019) S3440P substitution in C-terminal region of human Reelin dramatically impairs secretion of Reelin from HEK 293T cells. Cellular and Molecular Biology. 65(6):12–6. https://doi.org/10.14715/cmb/2019.65.6.3

McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F (2010) Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 26(16):2069–2070. https://doi.org/10.1093/bioinformatics/btq330

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S (2008) The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Human Genet 83(5):610–615. https://doi.org/10.1016/j.ajhg.2008.09.017

Article  CAS  Google Scholar 

Thorvaldsdóttir H, Robinson JT, Mesirov JP (2013) Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14(2):178–192. https://doi.org/10.1093/bib/bbs017

Article  CAS  PubMed  Google Scholar 

Márquez J, de la Oliva ARL, Matés JM, Segura JA, Alonso FJ (2006) Glutaminase: a multifaceted protein not only involved in generating glutamate. Neurochem Int 48(6–7):465–471. https://doi.org/10.1016/j.neuint.2005.10.015

Article  CAS  PubMed  Google Scholar 

Pérez-Gómez C, Matés JM, Gómez-Fabre PM, CASTILLO-OLIVARES Ad, Alonso FJ, Márquez J. (2003) Genomic organization and transcriptional analysis of the human L-glutaminase gene. Biochemical Journal. 370(3):771–84. https://doi.org/10.1042/bj20021445

Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump J-U et al (2019) Identification of a loss-of-function mutation in the context of glutaminase deficiency and neonatal epileptic encephalopathy. JAMA Neurol 76(3):342–350. https://doi.org/10.1001/jamaneurol.2018.2941

Article  PubMed  Google Scholar 

Feng Y, Zhang C, Wei Z, Li G, Gan Y, Liu C et al (2022) Gene variations of glutamate metabolism pathway and epilepsy. Acta Epileptologica 4(1):1–15. https://doi.org/10.1186/s42494-022-00103-2

Article  Google Scholar 

Rumping L, Tessadori F, Pouwels PJ, Vringer E, Wijnen JP, Bhogal AA et al (2019) GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. Hum Mol Genet 28(1):96–104. https://doi.org/10.1093/hmg/ddy330

Article  CAS  PubMed  Google Scholar 

Rumping L, Pouwels PJ, Wolf NI, Rehmann H, Wamelink MM, Waisfisz Q et al (2023) A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy. JIMD reports 64(3):217–222. https://doi.org/10.1002/jmd2.12359

Article  PubMed  PubMed Central  Google Scholar