Anaesthetic implications of hyperekplexia-'startle disease'GARG, R; RAMACHANDRAN, R; SHARMA, P et al.Anaesthesia and intensive care. 2008, Vol 36, Num 2, pp 254-256, issn 0310-057X, 3 p.Article

Hyperekplexia in kurdish families : A possible GLRA1 founder mutationSIREN, A; LEGROS, B; CHAHINE, L et al.Neurology. 2006, Vol 67, Num 1, pp 137-139, issn 0028-3878, 3 p.Article

A New Hyperekplexia Family with a Recessive Frameshift Mutation in the GLRA1 GeneZOONS, Evelien; GINJAAR, Ieke B; BOUMA, Paul A. D et al.Movement disorders. 2012, Vol 27, Num 6, pp 795-796, issn 0885-3185, 2 p.Article

Pontine hyperperfusion in sporadic hyperekplexiaVETRUGNO, Roberto; MASCALCHI, Mario; MONTAGNA, Pasquale et al.Journal of neurology, neurosurgery and psychiatry. 2007, Vol 78, Num 9, pp 1001-1004, issn 0022-3050, 4 p.Article

Hyperekplexia: Treatment of a Severe Phenotype and Review of the LiteratureMINEYKO, Aleksandra; WHITING, Sharon; GRAHAM, Gail E et al.Canadian journal of neurological sciences. 2011, Vol 38, Num 3, pp 411-416, issn 0317-1671, 6 p.Article

PERM syndrome sévère mimant un tétanos = Severe PERM syndrom mimicking tetanusWALLET, F; DIDELOT, A; DELANNOY, B et al.Annales françaises d'anesthésie et de réanimation. 2014, Vol 33, Num 9-10, pp 530-532, issn 0750-7658, 3 p.Article

Startle and its disordersMEINCK, H.-M.Neurophysiologie clinique (Paris). 2006, Vol 36, Num 5-6, pp 357-364, issn 0987-7053, 8 p.Article

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia familyTSAI, C. H; CHANG, F. C; SU, Y. C et al.Neurology. 2004, Vol 63, Num 5, pp 893-896, issn 0028-3878, 4 p.Article

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 geneCOTO, Eliecer; ARMENTA, Daniel; ESPINOSA, Raul et al.Movement disorders. 2005, Vol 20, Num 12, pp 1626-1629, issn 0885-3185, 4 p.Article

Ectodermal, Skeletal, and Genitourinary Abnormalities With Neonatal HyperekplexiaMCABEE, Gary N; SANTILLI, Anne Marie; STONE, Jennifer et al.Pediatric neurology. 2011, Vol 44, Num 5, pp 381-384, issn 0887-8994, 4 p.Article

Neurophysiology of the startle syndrome and hyperekplexiaBROWN, Peter.Advances in neurology. 2002, Vol 89, pp 153-159, issn 0091-3952, 7 p.Conference Paper

A novel GLRA1 mutation in a recessive hyperekplexia pedigreeFORSYTH, Rob J; GIKA, Artemis D; GINJAAR, Ieke et al.Movement disorders. 2007, Vol 22, Num 11, pp 1643-1645, issn 0885-3185, 3 p.Article

Hyperekplexia: A non-epileptic startle disorderRAJADHYAKSHA, S. B; BAHL, V. B.Indian pediatrics. 2002, Vol 39, Num 8, pp 773-776, issn 0019-6061, 4 p.Article

Saccadic eye movements in hyperekplexiaTIJSSEN, M. A. J; BOLLEN, E; VAN EXEL, E et al.Movement disorders. 1995, Vol 10, Num 6, pp 749-753, issn 0885-3185Article

The novel hyperekplexia allele CLRA1 (S267N) affects the ethanol site of the glycine receptorBECKER, Kristina; BREITINGER, Hans-Georg; HUMENY, Andreas et al.European journal of human genetics. 2008, Vol 16, Num 2, pp 223-228, issn 1018-4813, 6 p.Article

The role of glycine and glycine receptors in myoclonus and startle syndromesSCHOFIELD, Peter R.Advances in neurology. 2002, Vol 89, pp 263-274, issn 0091-3952, 12 p.Conference Paper

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)REES, Mark I; LEWIS, Trevor M; KWOK, John B. J et al.Human molecular genetics (Print). 2002, Vol 11, Num 7, pp 853-860, issn 0964-6906Article

Hyperekplexia in two siblingsKULKAMI, M. L; KANNAN, B; MATHADH, Prakash et al.Indian journal of pediatrics. 2006, Vol 73, Num 12, pp 1109-1111, issn 0019-5456, 3 p.Article

Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathwayQIANG SHAN; LU HAN; LYNCH, Joseph W et al.British journal of pharmacology. 2012, Vol 165, Num 7, pp 2113-2123, issn 0007-1188, 11 p.Article

Male transgenic glycine receptor α₁ (S267Q) mutant mice display a hyperekplexia-like increase in acoustic startle responsesFINDLAY, G. S; HARRIS, R. A; BLEDNOV, Y. A et al.Pharmacology, biochemistry and behavior. 2005, Vol 82, Num 1, pp 215-222, issn 0091-3057, 8 p.Article

Ne la faites pas tomber, elle est si sensible.. = Don't make her fall, she's so sensible..NGUYEN-TYMOCZKO, Marie-Emmanuelle; DIAGAN, Mohamed; KORT, Lotfi et al.Epilepsies (Montrouge). 2003, Vol 15, Num 2, pp 97-98, issn 1149-6576, 2 p.Article

Startle response : epileptic or non-epileptic? The case for flash SMA reflex seizuresCOKAR, Özlem; GELISSE, Philippe; LIVET, Marie-Odile et al.Epileptic disorders. 2001, Vol 3, Num 1, pp 7-11, issn 1294-9361Article

Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor musclesCRONE, C; NIELSEN, J; PETERSEN, N et al.Experimental brain research. 2001, Vol 140, Num 2, pp 190-197, issn 0014-4819Article

Hyperekplexia in a patient with a brainstem vascular anomalyGAMBARDELLA, A; VALENTINO, P; QUATTRONE, A et al.Acta neurologica scandinavica. 1999, Vol 99, Num 4, pp 255-259, issn 0001-6314Article

Hyperekplexia : abnormal startle response due to glycine receptor mutationsANDREW, M; OWEN, M. J.British journal of psychiatry (Print). 1997, Vol 170, Num FEV, pp 106-108, issn 0007-1250Article