Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Nature Communications

Volumn 6, Issue , 2015, Pages

  Stödberg, Tommy ^a   McTague, Amy ^b,c   Ruiz, Arnaud J ^d   Hirata, Hiromi ^e,f,g   Zhen, Juan ^h   Long, Philip ^d   Farabella, Irene ⁱ   Meyer, Esther ^b   Kawahara, Atsuo ^j   Vassallo, Grace ^k   Stivaros, Stavros M ^k,l   Bjursell, Magnus K ^a   Stranneheim, Henrik ^a   Tigerschiöld, Stephanie ^a   Persson, Bengt ^a,m   Bangash, Iftikhar ⁿ   Das, Krishna ^c,o   Hughes, Deborah ^p   Lesko, Nicole ^a   Lundeberg, Joakim ^q   Scott, Rod C ^b,c,r,s   Poduri, Annapurna ^t,u   Scheffer, Ingrid E ^v,w   Smith, Holly ^x   Gissen, Paul ^b,c,x   Schorge, Stephanie ^p   Reith, Maarten E A ^h   Topf, Maya ⁱ   Kullmann, Dimitri M ^p   Harvey, Robert J ^d   Wedell, Anna ^a   Kurian, Manju A ^b,c   more..

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF LONDON   (United Kingdom)

^e AOYAMA GAKUIN UNIVERSITY   (Japan)

^f NATIONAL INSTITUTE OF GENETICS   (Japan)

^g JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^h NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF LONDON   (United Kingdom)

^j UNIVERSITY OF YAMANASHI   (Japan)

^k ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

^m UPPSALA UNIVERSITY   (Sweden)

ⁿ ROYAL OLDHAM HOSPITAL   (United Kingdom)

^o YOUNG EPILEPSY   (United Kingdom)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^r UNIVERSITY OF VERMONT   (United States)

^s FLETCHER ALLEN HEALTH CARE   (United States)

^t BOSTON CHILDREN S HOSPITAL   (United States)

^u HARVARD MEDICAL SCHOOL   (United States)

^v UNIVERSITY OF MELBOURNE   (Australia)

^w FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^x UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; POTASSIUM CHLORIDE COTRANSPORTER 2; COTRANSPORTER; POTASSIUM-CHLORIDE SYMPORTERS; SLC12A5 PROTEIN, HUMAN; ZEBRAFISH PROTEIN;

ANION; GENE EXPRESSION; INHIBITION; MUTATION; NERVOUS SYSTEM DISORDER; POTASSIUM CHLORIDE; PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EPILEPSY; EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURE; FOCAL EPILEPSY; GENE EXPRESSION; HUMAN; INFANT DISEASE; INFANTILE ONSET PHARMACORESISTANT EPILEPSY SYNDROME; LOSS OF FUNCTION MUTATION; NERVE EXCITABILITY; NONHUMAN; PROTEIN GLYCOSYLATION; SYNAPTIC INHIBITION; ANIMAL; CHILD; DNA SEQUENCE; GENETICS; HEK293 CELL LINE; IMMUNOBLOTTING; INFANT; MALE; METABOLISM; MUTATION; NERVE CELL; NERVE CELL INHIBITION; PATCH CLAMP TECHNIQUE; PEDIGREE; PRESCHOOL CHILD; ZEBRA FISH;

ANIMALS; CHILD; CHILD, PRESCHOOL; CHLORIDES; EPILEPSIES, PARTIAL; HEK293 CELLS; HUMANS; IMMUNOBLOTTING; INFANT; MALE; MUTATION; NEURAL INHIBITION; NEURONS; PATCH-CLAMP TECHNIQUES; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYMPORTERS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84940846225     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms9038     Document Type: Article

References (36)

1. McTague, A. et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain 136, 1578-1591 (2013).
2. Barcia, G. et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat. Genet. 44, 1255-1259 (2012).
3. Striano, P., Coppola, G., Zara, F., Nabbout, R. Genetic heterogeneity in malignant migrating partial seizures of infancy. Ann. Neurol. 75, 324-326 (2014).
4. Rivera, C. et al. The K\+/Cl-co-transporter KCC2 renders GABA hyperpolarizing during neuronal maturation. Nature 397, 251-255 (1999).
5. Chamma, I., Chevy, Q., Poncer, J. C., Lévi, S. Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission. Front. Cell. Neurosci. 6, 1-15 (2012).
6. Vanhatalo, S. et al. Slow endogenous activity transients and developmental expression of K\+-Cl-cotransporter 2 in the immature human cortex. Eur. J. Neurosci. 22, 2799-2804 (2005).
7. Ben-Ari, Y. Excitatory actions of gaba during development: the nature of the nurture. Nat. Rev. Neurosci. 3, 728-739 (2002).
8. Fiumelli, H. et al. An ion transport-independent role for the cation-chloride cotransporter KCC2 in dendritic spinogenesis in vivo. Cereb. Cortex 23, 378-388 (2013).
9. Blaesse, P. et al. Oligomerization of KCC2 correlates with development of inhibitory neurotransmission. J. Neurosci. 26, 10407-10419 (2006).
10. Hartmann, A. M. et al. Differences in the large extracellular loop between the K(\+)-Cl(-) cotransporters KCC2 and KCC4. J. Biol. Chem. 285, 23994-24002 (2010).
11. Hoch, W., Betz, H., Becker, C. M. Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor. Neuron 3, 339-348 (1989).
12. Staley, K. J., Proctor, W. R. Modulation of mammalian dendritic GABA(A) receptor function by the kinetics of Cl-and HCO3-transport. J. Physiol. 519, 693-712 (1999).
13. Hekmat-Scafe, D. S., Lundy, M. Y., Ranga, R., Tanouye, M. A. Mutations in the K\+/Cl-cotransporter gene kazachoc (kcc) increase seizure susceptibility in Drosophila. J. Neurosci. 26, 8943-8954 (2006).
14. Hübner, C. A. et al. Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition. Neuron 30, 515-524 (2001).
15. Woo, N. S. et al. Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene. Hippocampus 12, 258-268 (2002).
16. Tornberg, J., Voikar, V., Savilahti, H., Rauvala, H., Airaksinen, M. S. Behavioural phenotypes of hypomorphic KCC2-deficient mice. Eur. J. Neurosci. 21, 1327-1337 (2005).
17. Hübner, C. A. The KCl-cotransporter KCC2 linked to epilepsy. EMBO Rep. 15, 732-733 (2014).
18. Kahle, K. T. et al. Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy. EMBO Rep. 15, 766-774 (2014).
19. Puskarjov, M. et al. A variant of KCC2 from patients with febrile seizures impairs neuronal Cl-extrusion and dendritic spine formation. EMBO Rep. 15, 723-729 (2014).
20. Quinlan, A. R., Hall, I. M. BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26, 841-842 (2010).
21. McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
22. DePristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
23. Wang, K., Li, M., Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
24. Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 15, 2078-2079 (2009).
25. Söding, J., Biegert, A., Lupas, A. N. The HHpred interactive server for protein homology detection and structure prediction. Nucleic Acids Res. 33, W244-W248 (2005).
26. Eswar, N. et al. Tools for comparative protein structure modeling and analysis. Nucleic Acids Res. 31, 3375-3380 (2003).
27. Ashkenazy, H., Erez, E., Martz, E., Pupko, T., Ben-Tal, N. ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids. Nucleic Acids Res. 38, W529-W533 (2010).
28. Shen, M. Y., Sali, A. Statistical potential for assessment and prediction of protein structures. Protein Sci. 15, 2507-2524 (2006).
29. Sippl, M. J. Boltzmann's principle, knowledge-based mean fields and protein folding. An approach to the computational determination of protein structures. J. Comput. Aided Mol. Des. 7, 473-501 (1993).
30. Pettersen, E. F. UCSF Chimera-a visualization system for exploratory research and analysis. J. Comput. Chem. 25, 1605-1612 (2004).
31. Dunbrack, Jr R. L. Rotamer libraries in the 21st century. Curr. Opin. Struct. Biol. 12, 431-440 (2002).
32. Chung, S. K. et al. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J. Neurosci. 30, 9612-9620 (2010).
33. Chamma, I. et al. Activity-dependent regulation of the K/Cl transporter KCC2 membrane diffusion, clustering, and function in hippocampal neurons. J. Neurosci. 33, 15488-15503 (2013).
34. Sakuma, T. et al. Efficient TALEN construction and evaluation methods for human cell and animal applications. Genes Cells 18, 315-326 (2013).
35. Shaffer, P. L., Goehring, A., Shankaranarayanan, A., Gouaux, E. Structure and mechanism of a Na\+-independent amino acid transporter. Science 325, 1010-1014 (2009).
36. Antrobus, S. P., Lytle, C., Payne, J. A. K\+-Cl-cotransporter-2 KCC2 in chicken cardiomyocytes. Am. J. Physiol. Cell Physiol 303, C1180-C1191 (2012).