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

• Main Authors: Feda E. Mohamed (Author), Mohammad A. Ghattas (Author), Taleb M. Almansoori (Author), Mohammed Tabouni (Author), Ibrahim Baydoun (Author), Praseetha Kizhakkedath (Author), Anne John (Author), Hiba Alblooshi (Author), Qudsia Shaukat (Author), Fatma Al-Jasmi (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to SLC1A4 genetic variants since the first reported case in 2015. SLC1A4 encodes for the neutral amino acid transporter ASCT1 which is involved in the transportation of serine between astrocytes and neurons....