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Heather C. Mefford
University of Washington
EpilepsyMutationGeneticsMedicineBiology
222Publications
48H-index
12kCitations
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Publications 474
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#1Gemma L. Carvill (NU: Northwestern University)H-Index: 21
#2Katherine L. Helbig (Children's Hospital of Philadelphia)H-Index: 15
Last. Joy Y. Sebe (UW: University of Washington)H-Index: 5
view all 45 authors...
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#1Dongxue Mao (BCM: Baylor College of Medicine)H-Index: 2
#2Chloe M. Reuter (Stanford University)H-Index: 7
Last. Matthew T. Wheeler (Stanford University)H-Index: 30
view all 284 authors...
EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification o...
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#1Lynette G. Sadleir (University of Otago)H-Index: 24
#2Guillem de Valles‐Ibáñez (University of Otago)
Last. Melanie Bahlo (University of Melbourne)H-Index: 45
view all 13 authors...
Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivi...
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#1Malavika Hebbar (UW: University of Washington)
#2Heather C. Mefford (UW: University of Washington)H-Index: 48
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-...
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#1Heather C. Mefford (UW: University of Washington)H-Index: 48
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#1Heather C. Mefford (UW: University of Washington)H-Index: 48
Source
#1Heather C. Mefford (UW: University of Washington)H-Index: 48
Source
#1Heather C. Mefford (UW: University of Washington)H-Index: 48
Source
#1Heather C. Mefford (UW: University of Washington)H-Index: 48
Source
#1Heather C. Mefford (UW: University of Washington)H-Index: 48
Source
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