Feda E Mohamed Mohammad A Ghattas Taleb M Almansoori Mohammed Tabouni Ibrahim Baydoun Praseetha Kizhakkedath Anne John Hiba Alblooshi Qudsia Shaukat Fatma Al-Jasmi
10.3389/fped.2023.1183574
Front Pediatr
2023 Jul 12;11:1183574.
amino acid transporter microcephaly seizure spastic tetraplegia spasticity
CC BY
https://pubmed.ncbi.nlm.nih.gov/37502193/
PMC10369183
37502193
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
2023