Biochemistry, Genetics and Molecular Biology
Kinase
100%
Phosphotransferase
100%
Proband
100%
Missense
100%
Initiation Factor
100%
Eukaryotic Translation
100%
Signal Transduction
50%
Cellular Differentiation
50%
Cell Proliferation
50%
Protein Biosynthesis
50%
Innate Immunity
50%
Physiological Stress
50%
Involuntary Movement
50%
Fibroblast
50%
Programmed Cell Death
50%
Keyphrases
Leukoencephalopathy
100%
Developmental Delay
100%
Neurologic
100%
EIF2AK2
100%
Proband
18%
Missense Variants
18%
Deleterious Variants
18%
Febrile Illness
18%
Vanishing White Matter
18%
Childhood Ataxia with Central Nervous System Hypomyelination
18%
Eukaryotic Initiation Factor 2B (eIF2B)
18%
Innate Immune Response
9%
Kinase Family
9%
Cell Proliferation
9%
Leukodystrophy
9%
Hypertonia
9%
Cell Differentiation
9%
Cognitive Impairment
9%
α-kinase
9%
Fibroblasts
9%
Protein Synthesis
9%
Pathogenicity
9%
Apoptotic Cells
9%
Signal Transduction
9%
Unrelated Individuals
9%
Hypotonia
9%
Kinase Activity
9%
Pathogenic Mechanism
9%
Physiological Stress
9%
Ataxia
9%
Stress Conditions
9%
Dysarthria
9%
Human Disorders
9%
Neurological Regression
9%
EIF2
9%
Mammalian Cell Lines
9%
Neurodevelopmental Syndrome
9%
White Matter Alterations
9%
Involuntary Movement
9%
Febrile Infection
9%
Eukaryotic Translation Initiation Factor 2α
9%
Translation Initiation Factor eIF2
9%
EIF2S1
9%
Verbal Ability
9%
Eukaryotic Translation Initiation Factor
9%