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

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

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

Trigeminally induced startle in children with hyperekplexiaOGURO, Katsuhiko; HIRANO, Keiko; AIBA, Hideo et al.Movement disorders. 2005, Vol 20, Num 4, pp 484-489, issn 0885-3185, 6 p.Article

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

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

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

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

The startle syndromes: Physiology and treatmentDREISSEN, Yasmine E. M; TIJSSEN, Marina A. J.Epilepsia (Copenhagen). 2012, Vol 53, pp 3-11, issn 0013-9580, 9 p., SUP7Conference Paper

Recessive hyperekplexia mutations of the glycine receptor α1 subunit affect cell surface integration and stabilityVILLMANN, Carmen; OERTEL, Jana; MELZER, Nima et al.Journal of neurochemistry. 2009, Vol 111, Num 3, pp 837-847, issn 0022-3042, 11 p.Article

Persisting hyperekplexia after idiopathic, self-limiting brainstem encephalopathyVAN DE WARRENBURG, Bart P. C; CORDIVARI, Carla; BROWN, Peter et al.Movement disorders. 2007, Vol 22, Num 7, pp 1017-1020, issn 0885-3185, 4 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

Hyperekplexia mutation R271L of α₁ glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [³H]strychnine bindingMAKSAY, Gabor; BIRO, Timea; LAUBE, Bodo et al.Neurochemistry international. 2008, Vol 52, Num 1-2, pp 235-240, issn 0197-0186, 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

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