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■ Abbreviation / Long Form : EIEE / early infantile epileptic encephalopathy

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Total Number of Papers: 53
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Abbreviation:   EIEE  (>> Co-occurring Abbreviation)
Long Form:   early infantile epileptic encephalopathy
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No. Year Title Co-occurring Abbreviation
2020 Rotavirus-Induced Neonatal Epileptic Encephalopathy-A Disease Spectrum Illustrated by Monochorionic Twins. EEG, MRI
2020 Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate. ---
2019 A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. EEG
2019 Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review. BFIS, EEG, MRI
2019 Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review. CYFIP2
2019 Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. AHC, RDP
2019 Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy. CHO
2019 Ketogenic diet as a successful early treatment modality for SCN2A mutation. DS, KD, OS, WS
2019 Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. SIDS
10  2019 Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy. FMRP, mRNA, WRC
11  2019 Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. EEG, EIMFS, SB
12  2019 SCN1B-linked early infantile developmental and epileptic encephalopathy. ABR, DEE, DS, LOF, SE, VGSC, WT
13  2019 The landscape of early infantile epileptic encephalopathy in a consanguineous population. EE, EEG
14  2019 The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. ---
15  2018 A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl. MECP2, RTT, STXBP1
16  2018 A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. BFNS, EEG, EME
17  2018 Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. EOEE
18  2018 Novel West syndrome candidate genes in a Chinese cohort. WES, WS
19  2018 Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. EIMFS, FGF12, PB
20  2018 Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. WGA
21  2017 Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. TCA
22  2017 Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. AP, EAD, INa, OMIM, SUDEP
23  2017 Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ---
24  2016 Beyond the SNARE: Munc18-1 chaperones alpha-synuclein. ---
25  2016 Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. AP, SUDEP
26  2016 CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. CDKL5
27  2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. MWS
28  2015 Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. DS, EFMR
29  2015 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. ---
30  2015 Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. ---
31  2014 Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. PLCB1
32  2012 Epileptic encephalopathies in infants and children. LIEE
33  2012 Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. ---
34  2012 Ohtahara syndrome with emphasis on recent genetic discovery. ---
35  2009 Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. EEG, EME, ILAE
36  2009 Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. WS
37  2005 Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy. EEG, SB
38  2001 A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies. MRI
39  2001 Early epileptic encephalopathies including West syndrome: a 3-year retrospective study from Klang Hospital, Malaysia. EEE, SMEI, WS
40  2001 Early epileptic encephalopathy with suppression burst electroencephalographic pattern--an analysis of eight Taiwanese patients. EEG, EME, NKH, SB
41  2001 Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ---
42  2001 Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. EME, WS
43  2001 Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. EEG
44  2001 Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ---
45  1999 Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. EEG, MRI
46  1998 Infantile epileptic encephalopathy (Ohtahara syndrome) and migrational disorder. ---
47  1997 [Early infantile epileptic encephalopathy and glycine encephalopathy]. ---
48  1995 [Early infantile epileptic encephalopathy]. ---
49  1995 [Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved]. TRH
50  1993 A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. EEG, EME
51  1992 Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. ---
52  1990 Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. BIME, EME, SIME
53  1990 [Effectiveness of TRH analog in a case of early infantile epileptic encephalopathy]. TRH