Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

Keyphrases

• Glutamate 100%
• Myoclonic Encephalopathy 100%
• Early Infantile 100%
• SLC25A22 100%
• Early Myoclonic Encephalopathy 100%
• Symporter 100%
• Genetic Basis 66%
• Homozygosity Mapping 66%
• Candidate Gene Study 66%
• Israel 33%
• Etiology 33%
• Epileptic 33%
• Electroencephalography 33%
• Missense mutation 33%
• Metabolic 33%
• Focus of Attention 33%
• Highly Heterogeneous 33%
• Arab Muslim 33%
• Autosomal Recessive 33%
• Encephalopathy 33%
• Consanguineous Family 33%
• New Genetics 33%
• Clinical History 33%
• Feature-based 33%
• Myoclonic 33%
• Diagnostic Strategy 33%
• Consanguineous Parents 33%
• Semiology 33%
• Genetic Entities 33%
• Integrated Diagnostics 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Symporter 100%
• Gene Sequence 66%
• Candidate Gene 66%
• Homozygosity 66%
• Missense Mutation 33%
• Autosomal Recessive Disorder 33%
• Cotransporter 33%