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Differential diagnosis of epileptic seizures in infancy including the neonatal period.
Cross JH. Cross JH. Semin Fetal Neonatal Med. 2013 Aug;18(4):192-5. doi: 10.1016/j.siny.2013.04.003. Epub 2013 Apr 30. Semin Fetal Neonatal Med. 2013. PMID: 23642846 Review.
Some are physiological in the normal infant, such as neonatal tremor, benign neonatal sleep myoclonus, and shuddering attacks, whereas others may herald alternative rare neurological diagnoses with differing prognoses such as hyperekplexia, paroxysmal extreme pain disorder …
Some are physiological in the normal infant, such as neonatal tremor, benign neonatal sleep myoclonus, and shuddering attacks, whereas other …
The startle syndromes: physiology and treatment.
Dreissen YE, Tijssen MA. Dreissen YE, et al. Epilepsia. 2012 Dec;53 Suppl 7:3-11. doi: 10.1111/j.1528-1167.2012.03709.x. Epilepsia. 2012. PMID: 23153204 Free article. Review.
Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. ...The preserved consciousness distinguishes it from epileptic seizures. Clonazepam is the first-choice ther …
Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and …
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
Masri A, Chung SK, Rees MI. Masri A, et al. Brain Dev. 2017 Apr;39(4):306-311. doi: 10.1016/j.braindev.2016.10.010. Epub 2016 Nov 11. Brain Dev. 2017. PMID: 27843043
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. ...OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study inc …
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. ...O …
New treatment paradigms in neonatal metabolic epilepsies.
Pearl PL. Pearl PL. J Inherit Metab Dis. 2009 Apr;32(2):204-13. doi: 10.1007/s10545-009-1045-8. Epub 2009 Feb 24. J Inherit Metab Dis. 2009. PMID: 19234868 Review.
Each of these factors renders neonatal seizures more difficult to treat, and therapy has been a vexing area for recent advances in this seizure category. ...This requires oral hypoglycaemic therapy, and not insulin, for neurological responsiveness. The startle syndr …
Each of these factors renders neonatal seizures more difficult to treat, and therapy has been a vexing area for recent advances in th …
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI. Thomas RH, et al. Brain. 2013 Oct;136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11. Brain. 2013. PMID: 24030948
Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. ...In addition to the characteristic 'stiffness, startles and stumbles' of hyperekplexia, apnoea …
Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three a …
Ethnicity can predict GLRA1 genotypes in hyperekplexia.
Thomas RH, Drew CJ, Wood SE, Hammond CL, Chung SK, Rees MI. Thomas RH, et al. J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):341-3. doi: 10.1136/jnnp-2014-307903. Epub 2014 Jun 26. J Neurol Neurosurg Psychiatry. 2015. PMID: 24970905
OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor (GLRA1). ...METHODS: We carefully ascertained reports of ethnicity from our hyperekplexia research cohort. These were compared with all published …
OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor (GLRA1). ... …
Human startle reflex: technique and criteria for abnormal response.
Chokroverty S, Walczak T, Hening W. Chokroverty S, et al. Electroencephalogr Clin Neurophysiol. 1992 Aug;85(4):236-42. doi: 10.1016/0168-5597(92)90111-n. Electroencephalogr Clin Neurophysiol. 1992. PMID: 1380910
This result is consistent with past qualitative reports which have indicated that abnormal startle is associated both with excessive startle and with subnormal habituation. Study of further patients with hyperekplexia will be necessary to either confirm our data or modify …
This result is consistent with past qualitative reports which have indicated that abnormal startle is associated both with excessive startle …
Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response.
Buckwalter MS, Testa CM, Noebels JL, Camper SA. Buckwalter MS, et al. Genomics. 1993 Aug;17(2):279-86. doi: 10.1006/geno.1993.1322. Genomics. 1993. PMID: 8406478 Free article.
Synteny homology and phenotypic similarities suggest that spasmodic mice may be a genetic model for the inherited human startle disease, hyperekplexia (STHE)....
Synteny homology and phenotypic similarities suggest that spasmodic mice may be a genetic model for the inherited human startle disease, …