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Abbreviation : EOEEs
Long Form : early-onset epileptic encephalopathies
No. Year Title Co-occurring Abbreviation
2021 A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy. EEG, WT
2021 Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review. ---
2021 Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation. KD
2021 Postnatal Arx transcriptional activity regulates functional properties of PV interneurons. Arx, cKO, EEG, FACS, PVIs
2018 Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. ---
2017 A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current. CHO, Syn-1A
2017 De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction. ---
2017 Early-onset epileptic encephalopathy with de novo SCN8A mutation. Arg, Gly, SUDEP
2016 A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy. PIGA, WES
10  2016 Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause. CNVs
11  2016 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. CDKL5, LEV, NGS, TPM, VPA
12  2016 RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. WES
13  2016 Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies. WES
14  2015 De novo KCNT1 mutations in early-onset epileptic encephalopathy. EIMFS
15  2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. CGH, EEG, MRI, STXBP1
16  2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. NMDA, WES
17  2015 NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy. NAPB, SNARE
18  2015 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. WES
19  2014 Early onset epileptic encephalopathy caused by de novo SCN8A mutations. MMPSI, MRI
20  2014 PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. GPI
21  2013 Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. OS
22  2013 Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. ---
23  2013 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. MMPSI
24  2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. BFNE
25  2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. CNVs