article_metadata: Feda E Mohamed Mohammad A Ghattas Taleb M Almansoori Mohammed Tabouni Ibrahim Baydoun Praseetha Kizhakkedath Anne John Hiba Alblooshi Qudsia Shaukat Fatma Al-Jasmi
article_metadata: 10.3389/fped.2023.1183574
article_metadata: Front Pediatr
article_metadata: 2023 Jul 12;11:1183574.
article_metadata: amino acid transporter microcephaly seizure spastic tetraplegia spasticity
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/37502193/
article_metadata: PMC10369183
article_metadata: 37502193
article_metadata: Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis
article_metadata: 2023