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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life  Julien Thevenon, Mathieu Milh, François.

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Presentation on theme: "Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life  Julien Thevenon, Mathieu Milh, François."— Presentation transcript:

1 Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life  Julien Thevenon, Mathieu Milh, François Feillet, Judith St-Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency-Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaetan Lesca, Salima El Chehadeh, Christel Thauvin-Robinet, Alice Masurel-Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean- Baptiste Rivière  The American Journal of Human Genetics  Volume 95, Issue 1, Pages (July 2014) DOI: /j.ajhg Copyright © 2014 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of the Three Families with SLC13A5 Mutations
Individuals for whom exome sequencing was performed are indicated by asterisks (∗). The subject with a homozygous BCKDHB mutation is indicated by the symbol ¶. Detection of the identified SLC13A5 variants was performed in all available individuals. mut/mut and mut/− refer to compound heterozygous and heterozygous carriers of SLC13A5 mutations, respectively. −/− indicate individuals for whom no SLC13A5 mutation was identified. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Subject 2: Epileptic Activity with Long-Lasting Multifocal Bilateral Seizures during the First Week of Life (A) Schematic representation of the electrode placement according to the international standards in neonate (subject 2 at fifth day of life). (B) Longitudinal (lines 1–6) and transverse montage (lines 7–10) showing a typical seizure beginning in the right hemisphere, temporal region (dotted line), lasting around 100 s and immediately followed by a seizure originating in the left hemisphere, temporal lobe (full trace) beginning at around 100 s and lasting 130 s. Clinically, the discharge was not symptomatic initially, then the neonate displayed chewing movements (20th s), discrete clonic jerks of the left limbs (50th s), and discrete clonic jerks of the right limbs (130th s). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

4 Figure 3 In Silico Prediction of the Impact of SLC13A5 Mutations on Sodium Binding Left panel represents 3D model of VcINDY, SLC13A5 bacterial ortholog (PDB 4F35). Citrate molecule (yellow) and the first sodium-binding site (green) are shown. Right panels are 6 Å zoomed-in focuses of both wild-type and mutated residues. Protein structure data were loaded in the Swiss-PDB viewer and mutated residues introduced, with the most probable rotamer selected. Hydrogen bonds were computed by standard parameters. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

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