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

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

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 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

Novel mutation in GLRB in a large family with hereditary hyperekplexiaAL-OWAIN, M; COLAK, D; OZAND, P. T et al.Clinical genetics. 2012, Vol 81, Num 5, pp 479-484, issn 0009-9163, 6 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

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delayTHOMAS, Rhys H; CHUNG, Seo-Kyung; WOOD, Sian E et al.Brain. 2013, Vol 136, pp 3085-3095, issn 0006-8950, 11 p., 10Article

Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with HyperekplexiaKANG, Hoon-Chul; SU JEONG YOU; MYUNG JAE CHEY et al.Movement disorders. 2008, Vol 23, Num 4, pp 610-613, issn 0885-3185, 4 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

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

Exaggerated startle reactions : Neurophysiology of the BrainstemDREISSEN, Yasmine E. M; BAKKER, Mirte J; KOELMAN, Johannes H. T. M et al.Clinical neurophysiology. 2012, Vol 123, Num 1, pp 34-44, issn 1388-2457, 11 p.Article

Hyperekplexia = HyperekplexiaCARNEIRO, Maryline; ROUBERTIE, Agathe.MTP. Médecine thérapeutique pédiatrie. 2011, Vol 14, Num 2, pp 84-85, issn 1286-5494, 2 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

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

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

Novel Mutation of GLRA1 in Omani Families With Hyperekplexia and Mild Mental RetardationAMNA MOHAMMED AL-FUTAISI; MOHAMMED NASSER AL-KINDI; AL-MAWALI, Al-Mundher et al.Pediatric neurology. 2012, Vol 46, Num 2, pp 89-93, issn 0887-8994, 5 p.Article

Neurological ChannelopathiesKULLMANN, Dimitri M.Annual review of neuroscience (Print). 2010, Vol 33, pp 151-172, issn 0147-006X, 22 p.Article

Molecular pharmacology of the glycine receptor chloride channelWEBB, Timothy I; LYNCH, Joseph W.Current pharmaceutical design. 2007, Vol 13, Num 23, pp 2350-2367, issn 1381-6128, 18 p.Article

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia : A clinical, biochemical and genetic studyMACAYA, A; BRUNSO, L; FERNANDEZ-CASTILLO, N et al.Neuropediatrics. 2005, Vol 36, Num 6, pp 389-394, issn 0174-304X, 6 p.Article

Bovine myoclonus: Model of human hyperekplexia (Startle disease)HEALY, Peter J; PIERCE, Kerrie D; DENNIS, Julie A et al.Movement disorders. 2002, Vol 17, Num 4, pp 743-744, issn 0885-3185Article

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