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The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, an …
BACKGROUND AND OBJECTIVES: ATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyon …
Complicated Migraines.
Blumenfeld AE, Victorio MC, Berenson FR. Blumenfeld AE, et al. Semin Pediatr Neurol. 2016 Feb;23(1):18-22. doi: 10.1016/j.spen.2016.01.007. Epub 2016 Jan 22. Semin Pediatr Neurol. 2016. PMID: 27017017 Review.
In this article, we review the literature on hemiplegic migraines, alternating hemiplegia of childhood, migraine with brainstem aura, retinal migraine, ophthalmoplegic migraine, Alice in Wonderland syndrome, and acute confusional migraine. ...
In this article, we review the literature on hemiplegic migraines, alternating hemiplegia of childhood, migraine …
The CLDN5 gene at the blood-brain barrier in health and disease.
Hashimoto Y, Greene C, Munnich A, Campbell M. Hashimoto Y, et al. Fluids Barriers CNS. 2023 Mar 28;20(1):22. doi: 10.1186/s12987-023-00424-5. Fluids Barriers CNS. 2023. PMID: 36978081 Free PMC article. Review.
We then summarise mutagenesis-based studies which have facilitated a better understanding of the physiological role of the CLDN-5 protein at the BBB and have demonstrated the functional consequences of a recently identified pathogenic CLDN-5 missense mutation from patients with …
We then summarise mutagenesis-based studies which have facilitated a better understanding of the physiological role of the CLDN-5 protein at …
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review.
Cordani R, Pisciotta L, Mancardi MM, Stagnaro M, Prato G, Giacomini T, Morana G, Walsh P, Ghia T, Nobili L, De Grandis E. Cordani R, et al. Neuropediatrics. 2022 Feb;53(1):69-74. doi: 10.1055/s-0041-1739132. Epub 2021 Dec 1. Neuropediatrics. 2022. PMID: 34852372 Review.
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. ...
Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent
Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.
Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP. Maas RPPWM, et al. Eur J Paediatr Neurol. 2018 Nov;22(6):1110-1117. doi: 10.1016/j.ejpn.2018.07.012. Epub 2018 Aug 15. Eur J Paediatr Neurol. 2018. PMID: 30194039 Review.
OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. ...RESULTS: All p …
OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) inc …
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT, Newcomb TM, Swoboda KJ. Sweney MT, et al. Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Pediatr Neurol. 2015. PMID: 25447930 Free PMC article. Review.
BACKGROUND: ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, C …
BACKGROUND: ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, in …
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
Balint B, Bhatia KP. Balint B, et al. Eur J Neurol. 2015 Apr;22(4):610-7. doi: 10.1111/ene.12650. Epub 2015 Jan 29. Eur J Neurol. 2015. PMID: 25643588 Review.
Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 m …
Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiple
Focal brain dysfunction in a 41-year old man with familial alternating hemiplegia.
Dangond F, Garada B, Murawski BJ, Rey-Casserly C, Holman BL, Mikati MA. Dangond F, et al. Eur Arch Psychiatry Clin Neurosci. 1997;247(1):35-41. doi: 10.1007/BF02916251. Eur Arch Psychiatry Clin Neurosci. 1997. PMID: 9088804 Review.
To our knowledge, there are no previous correlative studies of serial high-resolution brain SPECT with MRI, or of detailed neuropsychologic assessment, in adult patients with such an advanced course of alternating hemiplegia of childhood....
To our knowledge, there are no previous correlative studies of serial high-resolution brain SPECT with MRI, or of detailed neuropsychologic …