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1.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Rees, Mark I; Harvey, Kirsten; Pearce, Brian R; Chung, Seo-Kyung; Duguid, Ian C; Thomas, Philip; Beatty, Sarah; Graham, Gail E; Armstrong, Linlea; Shiang, Rita; Abbott, Kim J; Zuberi, Sameer M; Stephenson, John B P; Owen, Michael J; Tijssen, Marina A J; van den Maagdenberg, Arn M J M; Smart, Trevor G; Supplisson, Stéphane; Harvey, Robert J.

Nat Genet ; 38(7): 801-6, 2006 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-16751771

2.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Crow, Yanick J; Leitch, Andrea; Hayward, Bruce E; Garner, Anna; Parmar, Rekha; Griffith, Elen; Ali, Manir; Semple, Colin; Aicardi, Jean; Babul-Hirji, Riyana; Baumann, Clarisse; Baxter, Peter; Bertini, Enrico; Chandler, Kate E; Chitayat, David; Cau, Daniel; Déry, Catherine; Fazzi, Elisa; Goizet, Cyril; King, Mary D; Klepper, Joerg; Lacombe, Didier; Lanzi, Giovanni; Lyall, Hermione; Martínez-Frías, María Luisa; Mathieu, Michèle; McKeown, Carole; Monier, Anne; Oade, Yvette; Quarrell, Oliver W; Rittey, Christopher D; Rogers, R Curtis; Sanchis, Amparo; Stephenson, John B P; Tacke, Uta; Till, Marianne; Tolmie, John L; Tomlin, Pam; Voit, Thomas; Weschke, Bernhard; Woods, C Geoffrey; Lebon, Pierre; Bonthron, David T; Ponting, Chris P; Jackson, Andrew P.

Nat Genet ; 38(8): 910-6, 2006 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-16845400

3.

Syncope and electroencephalography.

Stephenson, John B P.

Brain ; 137(Pt 7): e284, 2014 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-24732298

4.

Aicardi-Goutières syndrome (AGS).

Stephenson, John B P.

Eur J Paediatr Neurol ; 12(5): 355-8, 2008 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-18343173

5.

Paroxysmal non-epileptic motor events in childhood.

Stephenson, John B P.

Dev Med Child Neurol ; 54(4): 299-300, 2012 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-22348401

6.

Clinical diagnosis of syncopes (including so-called breath-holding spells) without electroencephalography or ocular compression.

Stephenson, John B P.

J Child Neurol ; 22(4): 502-8, 2007 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-17621539

7.

Autonomic seizures in 18q- syndrome.

Stephenson, John B P.

Brain Dev ; 27(2): 125-6, 2005 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-15668052

8.

The movement disorders of Coffin-Lowry syndrome.

Stephenson, John B P; Hoffman, Mary C; Russell, Aline J C; Falconer, Jane; Beach, Richard C; Tolmie, John L; McWilliam, Robert C; Zuberi, Sameer M.

Brain Dev ; 27(2): 108-13, 2005 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-15668049

9.

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.

Macleod, Stewart; Mallik, Arup; Tolmie, John L; Stephenson, John B P; O'Regan, Mary E; Zuberi, Sameer M.

Brain Dev ; 27(2): 118-24, 2005 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-15668051

10.

Stuart Green's vignettes 9 and 10.

Deonna, Thierry; Stephenson, John B P.

Eur J Paediatr Neurol ; 12(6): 437, 2008 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19062364

11.

Stuart Green's vignettes 5 and 6.

Deonna, Thierry; Stephenson, John B P.

Eur J Paediatr Neurol ; 12(4): 271-2, 2008 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-18705020

12.

Stuart Green's vignettes 3 and 4.

Deonna, Thierry; Stephenson, John B P.

Eur J Paediatr Neurol ; 12(3): 153-4, 2008 May.

Artículo en Inglés | MEDLINE | ID: mdl-18584782

13.

Stuart Green's vignettes 7 and 8.

Deonna, Thierry; Stephenson, John B P.

Eur J Paediatr Neurol ; 12(5): 353-4, 2008 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-18833643

14.

Ocular compression a century on: time for a thumbs-off approach?

Stephenson, John B P.

Epileptic Disord ; 10(2): 151-5, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-18539567

15.

Syncopes and other paroxysmal events.

Stephenson, John B P.

Handb Clin Neurol ; 112: 861-6, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23622295

16.

Childhood convulsive status epilepticus.

Stephenson, John B P.

Lancet ; 368(9544): 1327-8; author reply 1328, 2006 Oct 14.

Artículo en Inglés | MEDLINE | ID: mdl-17046462

17.

Mind-stretching faints.

Thijs, Roland D; Gert van Dijk, J; Stephenson, John B P; Wieling, Wouter.

Epileptic Disord ; 9(4): 418-23, 2007 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-18077228

18.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; Chong, Wui K; Cordelli, Duccio M; Ferreira, Patrick; Fluss, Joel; Forrest, Ewan H; Franzoni, Emilio; Garone, Caterina; Hammans, Simon R; Houge, Gunnar; Hughes, Imelda; Jacquemont, Sebastien; Jeannet, Pierre-Yves; Jefferson, Rosalind J; Kumar, Ram; Kutschke, Georg; Lundberg, Staffan; Lourenço, Charles M; Mehta, Ramesh; Naidu, Sakkubai; Nischal, Ken K; Nunes, Luís; Ounap, Katrin; Philippart, Michel; Prabhakar, Prab; Risen, Sarah R; Schiffmann, Raphael; Soh, Calvin; Stephenson, John B P; Stewart, Helen; Stone, Jon.

Nat Genet ; 44(3): 338-42, 2012 Jan 22.

Artículo en Inglés | MEDLINE | ID: mdl-22267198

19.

In Memoriam: Professor Jean Aicardi (1926-2015).

Stephenson, John B P.

Pediatr Neurol ; 54: 3-4, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26706478

20.

When patients with epilepsy or "epilepsy" might need a pacemaker.

Stephenson, John B P.

Epileptic Disord ; 17(3): 209-10, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26293325

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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Syncope and electroencephalography.

Aicardi-Goutières syndrome (AGS).

Paroxysmal non-epileptic motor events in childhood.

Clinical diagnosis of syncopes (including so-called breath-holding spells) without electroencephalography or ocular compression.

Autonomic seizures in 18q- syndrome.

The movement disorders of Coffin-Lowry syndrome.

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.

Stuart Green's vignettes 9 and 10.

Stuart Green's vignettes 5 and 6.

Stuart Green's vignettes 3 and 4.

Stuart Green's vignettes 7 and 8.

Ocular compression a century on: time for a thumbs-off approach?

Syncopes and other paroxysmal events.

Childhood convulsive status epilepticus.

Mind-stretching faints.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

In Memoriam: Professor Jean Aicardi (1926-2015).

When patients with epilepsy or "epilepsy" might need a pacemaker.