Keyphrases
Autosomal Dominant
100%
Dominant Negative
100%
Epilepsy Syndrome
100%
SLC4A1
100%
Microcephaly
28%
Spasticity
14%
Amino Acids
14%
Older Patients
14%
Astrocytes
14%
Biallelic Variants
14%
Epilepsy
14%
Trimeric
14%
Global Developmental Delay
14%
Duplication
14%
Transport Rate
14%
N-glycosylation Defects
14%
Plasma Membrane Localization
14%
Heterozygous Variant
14%
Thin Corpus Callosum
14%
Spastic Tetraplegia
14%
Neutral Amino Acid Transporter
14%
Neuroscience
Microcephaly
100%
Serine
100%
Corpus Callosum
50%
Astrocyte
50%
Amino Acid
50%
Cell Membrane
50%
Amino Acid Transporter
50%
Glycosylation
50%
Biochemistry, Genetics and Molecular Biology
Autosomal Dominant Inheritance
100%
Serine
100%
Cell Membrane
50%
Amino Acids
50%
Astrocyte
50%
Glycosylation
50%
Amino Acid Transporter
50%