Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1992 1
1997 1
1999 1
2000 1
2001 1
2002 1
2006 1
2008 1
2009 2
2011 1
2012 1
2013 1
2017 1
2018 1
2019 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

17 results

Results by year

Filters applied: . Clear all
Page 1
Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology.
Balint B, Vincent A, Meinck HM, Irani SR, Bhatia KP. Balint B, et al. Brain. 2018 Jan 1;141(1):13-36. doi: 10.1093/brain/awx189. Brain. 2018. PMID: 29053777 Free PMC article. Review.
Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations o …
Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with prote …
Glycine Receptor Drug Discovery.
Lynch JW, Zhang Y, Talwar S, Estrada-Mondragon A. Lynch JW, et al. Adv Pharmacol. 2017;79:225-253. doi: 10.1016/bs.apha.2017.01.003. Epub 2017 Mar 21. Adv Pharmacol. 2017. PMID: 28528670 Review.
In humans, GlyRs are assembled as homo- or heteromeric pentamers of alpha1-3 and beta subunits. GlyR malfunctions have been linked to a range of neurological disorders including hyperekplexia, temporal lobe epilepsy, autism, breathing disorders, and chronic inflamma …
In humans, GlyRs are assembled as homo- or heteromeric pentamers of alpha1-3 and beta subunits. GlyR malfunctions have been linked to …
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Ferraroli E, Perulli M, Veredice C, Contaldo I, Quintiliani M, Ricci M, Venezia I, Citrigno L, Qualtieri A, Spadafora P, Cavalcanti F, Battaglia DI. Ferraroli E, et al. Pediatr Neurol. 2022 Jul;132:45-49. doi: 10.1016/j.pediatrneurol.2022.05.002. Epub 2022 May 17. Pediatr Neurol. 2022. PMID: 35636282 Review.
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) excessive startle reflexes, and (3) generalized stiffness following the startle. ...
Hereditary hyperekplexia (HPX) is a genetic neurodevelopmental disorder recently defined by the triad of (1) neonatal hypertonia, (2) …
Chloride channelopathies.
Planells-Cases R, Jentsch TJ. Planells-Cases R, et al. Biochim Biophys Acta. 2009 Mar;1792(3):173-89. doi: 10.1016/j.bbadis.2009.02.002. Biochim Biophys Acta. 2009. PMID: 19708126 Free article. Review.
Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis. ...
Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage di …
Ion channels-related diseases.
Dworakowska B, Dołowy K. Dworakowska B, et al. Acta Biochim Pol. 2000;47(3):685-703. Acta Biochim Pol. 2000. PMID: 11310970 Free article. Review.
., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and …
., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, sch …
Myoclonus and epilepsies.
Fejerman N. Fejerman N. Indian J Pediatr. 1997 Sep-Oct;64(5):583-602. doi: 10.1007/BF02726110. Indian J Pediatr. 1997. PMID: 10771893 Review.
Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnosis with stimulus-sensitive epilepsies. In group 3, the concept of progressive encephalopathies is stressed. The fourth group refers t …
Characteristics of group 2 are "Kinsbourne Syndrome" and certain types of "Hyperekplexia" which pose interesting differential diagnos …
Hyperekplexia: treatment of a severe phenotype and review of the literature.
Mineyko A, Whiting S, Graham GE. Mineyko A, et al. Can J Neurol Sci. 2011 May;38(3):411-6. doi: 10.1017/s0317167100011793. Can J Neurol Sci. 2011. PMID: 21515498 Review.
Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. ...
Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exag
Disorders of membrane channels or channelopathies.
Celesia GG. Celesia GG. Clin Neurophysiol. 2001 Jan;112(1):2-18. doi: 10.1016/s1388-2457(00)00496-x. Clin Neurophysiol. 2001. PMID: 11137655 Review.
Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell. Channels can be classified into 3 types: non-gated, directly gated and second messenger gated channels. ...The following inherited channelopathies are described. (1) Sodium channelo …
Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell. Channels can be classified into 3 types: …
Lessons from the knocked-out glycine transporters.
Gomeza J, Armsen W, Betz H, Eulenburg V. Gomeza J, et al. Handb Exp Pharmacol. 2006;(175):457-83. doi: 10.1007/3-540-29784-7_19. Handb Exp Pharmacol. 2006. PMID: 16722246 Review.
In addition, they have provided animal models for two hereditary human diseases, glycine encephalopathy and hyperekplexia. Selective GlyT inhibitors have been shown to modulate neurotransmission and might constitute promising therapeutic tools for the treatment of psychiat …
In addition, they have provided animal models for two hereditary human diseases, glycine encephalopathy and hyperekplexia. Selective …
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. ...
Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and …
17 results