Publications - IAHCRC Researchers
RESEARCH PUBLICATIONS AND PRESENTATIONS FROM THE RESEARCHERS OF THE IAHCRC CONSORTIUM
1. |
Mutations du gène ATP1A3 et pathologies neurologiques
March 2016 - read the poster presentation |
2. |
Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study
PLoS One. 2016 Mar 21;11(3):e0151667. doi: 10.1371/journal.pone.0151667. eCollection 2016. |
3. |
Effects of Vagal Nerve Stimulation in Alternating Hemiplegia of Childhood
Neurology April 5, 2016 vol. 86 no. 16 Supplement I15.001. |
4. |
Motor function domains in alternating hemiplegia of childhood.
Dev Med Child Neurol. 2017 Aug;59(8):822-828. |
5. |
Diagnosis and Treatment of Alternating Hemiplegia of Childhood
Curr Treat Options Neurol. 2017 Feb;19(2):8. |
6. |
Clinical profile of AHC-patients with ATP1A3 mutations in an International Cohort
Presentation given at the 6th Symposium on ATP1A3 in Disease (Tokyo, 21 - 22 September 2017) |
7. |
The epileptology of alternating hemiplegia of childhood
Neurology. 2019 Sep 24;93(13):e1248-e125 |
8. |
White matter and cerebellar involvement in alternating hemiplegia of childhood
J Neurol. 2020 Jan 16. doi: 10.1007/s00415-020-09698-3 |
9. |
Social impairments in alternating hemiplegia of childhood
Dev Med Child Neurol. 2020 Feb 7. doi: 10.1111/dmcn |
10. |
Magnetic Resonance Imaging Volumetric Analysis in Patients with Alternating Hemiplegia of Childhood: A Pilot Study
EJ Paed Neurol. 2020 Feb 13. doi: 10.1016/j.ejpn.2020.02.001 |
11. |
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time
Neurology. 2020 Mar 2. doi: 10.1212/WNL.0000000000009175 |
12. |
Epilepsy and cannabidiol: a guide to treatment
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13. |
COVID-19: General advice for persons with epilepsy
2020 Mar 30. Available in many languages |
14. |
Cerebellar atrophy: A potential bio-marker in alternating hemiplegia of childhood (AHC); a pilot study that introduces brain volumetrics in the management of the disease
Eur J Paediatr Neurol. 2020 Apr 22. doi: 10.1016/j.ejpn.2020.04.010 |
15. |
Characterization of Severe and Extreme Behavioral Problems in Patients with Alternating Hemiplegia of Childhood
Paediatr Neurol. 2020 June 27. doi: 10.1016/j.pediatrneurol.2020.06.012 |
16. |
Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments
Orphanet J Rare Dis. 2020 Sep 3. doi: 10.1186/s13023-020-01474-w |
17. |
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study
Neurology. 2020 Sep 10. doi: 10.1212/WNL.0000000000010794 |
18. |
RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood
Neurology. 2021 Jan 27. doi: 10.1212/WNL.0000000000011543 |
19. |
Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.
Hum Gene Ther. 2021 Feb 12. doi: 10.1089/hum.2020.191. |
20. |
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain. 2021 Apr 21. doi: 10.1093/brain/awab052. Online ahead of print. |
21. |
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Front Neurol. 2021 Apr 8;12:658451. doi: 10.3389/fneur.2021.658451. |
22. |
Revision of the diagnostic criteria of alternating hemiplegia of childhood.
Eur J Paediatr Neurol. 2021 May 3. doi: 10.1016/j.ejpn.2021.05.004. |
23. |
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration
Brain Communications, Volume 3, Issue 3, 2021 Jun 4. doi: 10.1093/braincomms/fcab128 |
24. |
ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia
J Am Heart Assoc. 2021 Sep 7;32:A4-A5. doi: 10.1161/JAHA.120.019887 |
25. |
Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia
PLoS One 2022 Sep 30;17(9):e0268720. doi: 10.1371/journal.pone.0268720 |
26. |
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
Mov Disord. 2023 Feb 16. doi: 10.1002/mds.29357 |
27. |
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood
Eur J Paediatr Neurol. 2023 Aug 4;46:98-107. doi: 10.1016/j.ejpn.2023.07.005 |