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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stodberg, Tommy (author)
Karolinska Institutet
McTague, Amy (author)
UCL Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London WC1N 1EH, England.;Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England.
Ruiz, Arnaud J. (author)
UCL Sch Pharm, Dept Pharmacol, London WC1N 1AX, England.
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Hirata, Hiromi (author)
Karolinska Institutet
Zhen, Juan (author)
NYU, Sch Med, Dept Psychiat, New York, NY 10016 USA.
Long, Philip (author)
UCL Sch Pharm, Dept Pharmacol, London WC1N 1AX, England.
Farabella, Irene (author)
Univ London, Birkbeck Coll, Crystallog Dept Biol Sci, Inst Struct & Mol Biol, London WC1E 7HX, England.
Meyer, Esther (author)
UCL Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London WC1N 1EH, England.
Kawahara, Atsuo (author)
Univ Yamanashi, Grad Sch Med Sci, Dev Biol Lab, Chuo Ku, Kofu, Yamanashi 4093898, Japan.
Vassallo, Grace (author)
Royal Manchester Childrens Hosp, Dept Neurol, Manchester M13 9WL, Lancs, England.
Stivaros, Stavros M. (author)
Royal Manchester Childrens Hosp, Acad Dept Radiol, Manchester M13 9WL, Lancs, England.;Univ Manchester, Sch Populat Hlth, Imaging Sci, Manchester M13 9PL, Lancs, England.
Bjursell, Magnus K. (author)
Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Sci Life Lab, SE-17176 Stockholm, Sweden.
Stranneheim, Henrik (author)
Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Sci Life Lab, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Ctr Inherited Metab Dis, SE-17176 Stockholm, Sweden.
Tigerschiold, Stephanie (author)
Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Sci Life Lab, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Ctr Inherited Metab Dis, SE-17176 Stockholm, Sweden.
Persson, Bengt (author)
Uppsala universitet,Beräknings- och systembiologi,Science for Life Laboratory, SciLifeLab
Bangash, Iftikhar (author)
Royal Oldham Hosp, EEG Dept, Oldham OL1 2JH, Lancs, England.
Das, Krishna (author)
Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England.;Young Epilepsy, Lingfield RH7 6PW, Surrey, England.
Hughes, Deborah (author)
UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England.
Lesko, Nicole (author)
Karolinska Institutet
Lundeberg, Joakim (author)
KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,Royal Inst Technol, Sci Life Lab, Sch Biotechnol, SE-10044 Stockholm, Sweden.
Scott, Rod C. (author)
Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England.;Univ Vermont, Coll Med, Dept Neurol Sci, Burlington, VT 05405 USA.;Fletcher Allen Hlth Care, Dept Paediat Neurol, Vermont, VT 05401 USA.;UCL Inst Child Hlth, Dev Neurosci Programme, Clin Neurosci, London WC1N 1EH, England.
Poduri, Annapurna (author)
Boston Childrens Hosp, Epilepsy Genet Programme, Dept Neurol, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA.
Scheffer, Ingrid E. (author)
Univ Melbourne, Austin Hlth, Dept Med & Paediat, Melbourne, Vic 3052, Australia.;Royal Childrens Hosp, Melbourne, Vic 3052, Australia.;Florey Inst, Melbourne, Vic 3010, Australia.
Smith, Holly (author)
UCL, MRC Lab Mol Cell Biol, London WC1E 6BT, England.
Gissen, Paul (author)
UCL, MRC Lab Mol Cell Biol, London WC1E 6BT, England.;Great Ormond St Hosp Sick Children, Dept Metab Med, London WC1N 3JH, England.;UCL, Inst Child Hlth, Genet & Genom Med, London WC1N 1EH, England.
Schorge, Stephanie (author)
UCL Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England.
Reith, Maarten E. A. (author)
NYU, Sch Med, Dept Biochem & Mol Pharmacol, New York, NY 10016 USA.
Topf, Maya (author)
Univ London, Birkbeck Coll, Crystallog Dept Biol Sci, Inst Struct & Mol Biol, London WC1E 7HX, England.
Kullmann, Dimitri M. (author)
UCL Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England.
Harvey, Robert J. (author)
UCL Sch Pharm, Dept Pharmacol, London WC1N 1AX, England.
Wedell, Anna (author)
Karolinska Institutet
Kurian, Manju A. (author)
UCL Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London WC1N 1EH, England.;Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England.
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Karolinska Institutet UCL Inst Child Hlth, Dev Neurosci Programme, Mol Neurosci, London WC1N 1EH, England;Great Ormond St Hosp Sick Children, Dept Neurol, London WC1N 3JH, England. (creator_code:org_t)
2015-09-03
2015
English.
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). Decreased KCC2 surface expression, reduced protein glycosylation and impaired chloride extrusion contribute to loss of KCC2 activity, thereby impairing normal synaptic inhibition and promoting neuronal excitability in this early-onset epileptic encephalopathy.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

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