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(A) Crystal structure of thermostable SLC1A3 (PDB ID: 5LLU) marked using conserved residues homologous to SLC1A2 Gly82, Leu85 and Pro289 positions, and the glutamate substrate binding pocket.

Journal: Annals of neurology

Article Title: Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

doi: 10.1002/ana.25477

Figure Lengend Snippet: (A) Crystal structure of thermostable SLC1A3 (PDB ID: 5LLU) marked using conserved residues homologous to SLC1A2 Gly82, Leu85 and Pro289 positions, and the glutamate substrate binding pocket.

Article Snippet: Antibodies for immunoblots include: α-SLC1A2 (PA5–17099; Thermo Scientific); rabbit polyclonal anti-actin antibody (Santa Cruz Biotechnology); and HRP-conjugated goat anti-rabbit IgG (W4011; Promega).

Techniques: Binding Assay

(Left) Daily spasm counts before, during and after a 14 day trial of IV ceftriaxone in a 20-month-old girl with a heterozygous Leu85Pro SLC1A2 variant causing SLC1A2-related epilepsy. EEG verified daily epileptic spasms are indicated in green. (Right) Box-and-whisker plots showing the median, quartile and minimum/maximum daily spasm counts across the 13 days without ceftriaxone treatment and the 15 days with ceftriaxone treatment. P-value calculated using the two-tailed Welch’s t-test.

Journal: Annals of neurology

Article Title: Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism

doi: 10.1002/ana.25477

Figure Lengend Snippet: (Left) Daily spasm counts before, during and after a 14 day trial of IV ceftriaxone in a 20-month-old girl with a heterozygous Leu85Pro SLC1A2 variant causing SLC1A2-related epilepsy. EEG verified daily epileptic spasms are indicated in green. (Right) Box-and-whisker plots showing the median, quartile and minimum/maximum daily spasm counts across the 13 days without ceftriaxone treatment and the 15 days with ceftriaxone treatment. P-value calculated using the two-tailed Welch’s t-test.

Article Snippet: Antibodies for immunoblots include: α-SLC1A2 (PA5–17099; Thermo Scientific); rabbit polyclonal anti-actin antibody (Santa Cruz Biotechnology); and HRP-conjugated goat anti-rabbit IgG (W4011; Promega).

Techniques: Variant Assay, Whisker Assay, Two Tailed Test