A Data Sharing Service for the Studies of the IAHCRC International Consortium on the Rare Diseases of the ATP1A3 Gene

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PROJECT

The IAHCRC-CLOUD Platform is a ten years project started on September 2017, coordinated by the IAHCRC Data Manager Dr. Rosaria Vavassori and carried by the Informatics Team of the Euro Mediterranean Institute of Science and Technology (Palermo, Italy), a member Center of the IAHCRC Consortium. The Platform is a service for the secure collection, hosting and sharing of the data for all the Studies and Projects carried out by the IAHCRC Consortium.

FUNDERS

• Patient Associations for Alternating Hemiplegia of Childhood: Cure AHC – USA www.cureahc.org; AHC Association of Iceland - Iceland www.ahc.is; AHCUK – Great Britain www.ahcuk.org; AHC Vereniging Nederland - Holland www.ahckids.nl; AFHA - France www.afha.org; AESHA - Spain www.aesha.org;
• Euromediterranean Institute of Science and Technology (IEMEST) - Italy www.iemest.eu.
• Further co-funders would be desirable to ensure the sustainability of the Service (hosting, maintenance and development of new features) in the medium and long term.

AIMS

Implement an International Platform for the data collection and sharing for the collaborative studies of the Clinical and Basic Research Centers belonging to the IAHCRC Consortium, involved in research and treatment of the rare neurological diseases caused by mutations in the ATP1A3 gene (Alternating Hemiplegia of Childhood – AHC; Rapid Onset Dystonia and Parkinsonism – RDP; CAPOS Syndrome). Implement the international network of national Disease Registries (Node Databases), in which the centers of a national IAHCRC Node, as well as their patients, can collect and keep their data securely for their own, private use (for example for the clinical practice), and share them for any IAHCRC Study seved by the Platform in which they freely decide to participate.
The data collected in the Platform are managed in full compliance with the rules defined in the Charter of the IAHCRC Consortium, based on international ethical standards and national and international regulations on data privacy and security. Thanks to the implemented workflow, based on principles and methods of platform cooperativism and patient engagement, data can be collected in the Platform and shared in an ethical and informed way by all actors involved in the biomedical research process (clinicians, patients and basic researchers, scientific and academic institutions, and in perspective pharma and profit organizations).
In particular, data can be re-used safely and effectively for an indefinite number of studies and projects carried out by the Centers of the IAHCRC Consortium, in collaboration with patient associations and other external, public and private bodies, at both international and national levels. They can also be made accessible for larger-scale projects, always based on data sharing policies jointly-agreed by the Assembly of the IAHCRC member Centers and the patient representatives of the AHCIA International Alliance.

CURRENT AND EXPECTED RESULTS

In the short term, the Platform is serving the data collection for the OBSERV-AHC Study (Prospective Observational Natural History and Therapy Study on AHC), which has been launched in the third trimester 2018 and will last for five years, with the Scientific Coordination of the Neurology Clinic at the Duke University (Durham, NC USA).

Other IAHCRC Studies currently served by the Platform are the study of sleep in AHC (EEG-AHC Study, coordinated by the National Institute of Neurology and Neurosurgery, University College of London, UK), the study of the role of AHC genotype in cardiac repolarization (QTc-AHC Study, coordinated by the Division of Pediatric Cardiology, at the Duke University, Durham, NC USA), the study of phenotypes correlated to rare variants in ATP1A3 (VARIA-ATP1A3 Study, coordinated by the Great Ormond Street Children Hospital, University College of London, UK), the study of efficacy of ketogenic diet in AHC (KETO-AHC Study, coordinated by the Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain).

 A Video Library has been implemented, as an OBSERV-AHC sub-project, containing the videos uploaded personally by the patients' caretakers and reviewed by a group of international experts, to classify the paroxysmal episodes characteristic of the ATP1A3 diseases and the other movement disorders associated. This video library can also be used for educational and training purposes by the members of the IAHCRC Consortium, upon authorization of the Scientific Coordinators and always with the informed consent of the patients. The E-DIARY Project has been developed, also as an OBSERV-AHC sub-project, consisting of Event Diaries hosted on the Platform in which caretakers record the patients' AHC episodes using a web app on their mobile phones and personal computers. The VideoLibrary and the E-Diary Project have been published on the European Journal of Pediatric Neurology, August 2023.

Along with the data already produced by the past IAHCRC studies, which have been imported into the Platform, together with the data produced by the OBSERV-AHC Study and the current and future IAHCRC studies, the Platform can eventually develop in a knowledge base, usable for larger-scale studies on all ATP1A3 diseases: genotype-phenotype correlations, natural history, clinical trials for new candidate compounds, quality of life. This knowledge base may also be used to develop Guidelines for the Assistance to the Patients, and for other purposes of dissemination and professional and academic training. 

PARTNERS

Basic Research and Clinical Centers member of the IAHCRC Consortium; Patient Associations of the International Alliance AHCIA.

ACTIVITIES AT IEMEST

The IEMEST Institute coordinates the whole project and develops the software application, using the development tool “RedCap© Electronic Data Capture Tool”. The Institute is also providing the hosting and maintenance of the Platform, and is in charge of the data management, upon appointment of Assembly of the IAHCRC member Centers.

 

 

 

last update 28 August 2023

Privacy policy

1.1 Privacy Policy

This website is intended exclusively to provide information about the activities of the IAHCRC International Research Consortium and is managed by the Data Manager appointed by the Scientific Coordinators of the Consortium, on an individual and voluntary basis.
This Privacy Policy Notice explains how, in his role of Data Controller, the IAHCRC Data Manager processes the personal information collected by this Website, in line with the Italian Legislative Decree 196/2003 as amended by the Legislative Decree 101/2018 (hereinafter the "Privacy Code") and the EU Regulation N. 2016/679 (hereinafter "GDPR").
In full observance of the abovementioned regulations, the processing is based on principles of correctness, lawfulness and transparency and guarantees the privacy and security of the personal information of each User of this website, in accordance with the provisions of this Privacy Policy Notice.
This Notice is intended as information pursuant to articles 13 and 14 of the GDPR, and it applies exclusively to the collection of personal information through this website www.iahcrc.net.

1.2 Collected Data

This website collects data from its Users in two ways.

Data collected automatically

During the navigation in the website, the following information may be collected automatically (via cookies and other informatics technology, see Chapter 1.6) and stored in the log files of the website:

• Internet protocol address (IP);
• Browser type;
• Parameters of the device used to connect to the site;
• Name of the internet service provider (ISP);

These data are used to analyze user trends statistically and to administer and guarantee the security of the website; they are fully anonymous, in no way attributable to the identity of the Users.

Data provided voluntarily

This website can collect personal data from the users that freely and voluntarily provide them through its Contact Page, for the finalities described in the next Chapter.

1.3 Finalities and Legitimate Interest

The personal data collected and processed are the name and the email address of the Users presenting a request through the Contact Page of this Website.
The requests are considered pertinent if regarding (1) the activities of the IAHCRC Consortium and of the international community on the ATP1A3-related diseases in general, or (2) the exercise of the rights to personal data as described in Chapter 1.8. The requests are presented in terms of subject and description text.
The processing of these collected data is necessary for the purpose of the legitimate interest of the IAHCRC Consortium to handle the requests about its activities presented by the Users of this website. No other use is done of the data collected through this Website (no profiling, no score or evaluation, nor any other types of use that the GDPR – Art. 35(3) deems as “likely to result in a high risk to the rights and freedoms of natural persons”).

1.4 Modalities of the Processing

Only the requests with a pertinent subject are processed; all the other requests, not pertinent to the finalities and content of this website, and the associated personal data, are immediately deleted.
Personal data associated to pertinent requests are retained and processed using electronic, computerized and telematics tools with logics strictly related to the aforementioned finalities exclusively by the IAHCRC Data Manager.
Data are stored in electronic media in compliance with the minimum security measures required by law, both technical and organizational, adequate to guarantee the confidentiality and security of personal data, adopting security measures to prevent alteration or unauthorized loss, treatment or access and to guarantee the data integrity and security.
Based on the principle of minimization, the data collected and processed by the IAHCRC Data Manager are adequate, relevant and limited to what is necessary based on the finalities for which they are collected and in any case respecting the will of the Users (Data Subjects) that voluntary provide them through the Contact Page of this website.
The personal information that Users provide voluntarily associated to their requests, are processed exclusively to handle their requests and are erased when the requests are completed.

1.5 Transfer of the Data

The personal data collected through this website are processed exclusively by the IAHCRC Data Manager and are not transferred to any other external third parties, unless it is a legitimate request by the judicial authority and only in the cases provided for by law.

1.6 Cookies

The website uses cookies and similar technologies. Cookies allow to collect information about the access preferences of the Users, to verify the correct functioning of the Website and improve its functionality by customizing the content of the web pages based on the type of browser, to simplify navigation by automating the procedures.

The website uses the following categories of cookies:

Technical cookies
The cookies of this category include both persistent cookies and session cookies, which make it possible to distinguish between connected users and prevent a service from being delivered to the wrong user; they are also used for the security of the website and of the Users themselves. Without these cookies, the website or parts of it may not work properly. Consent for the use of this cookies is not required, as they are intrinsic to the access of the Users to the website.

Analytical cookies
Cookies in this category are used to collect information anonymously and aggregately on the correct use of the website and on the number and modalities of the User accesses for the purpose of statistical analysis, to improve the access to the website and simplify its use.

Third-party cookies
The site also acts as an intermediary for third-party cookies, exclusively used to provide the additional services of accessing some embedded multi-media data (YouTube, ...) and for sharing on the main social networks (Facebook, Twitter, ...). Some of these cookies may be profiling cookies, that are used by third parties to collect information on user behaviour and interests in order to provide personalized advertising.

Consent for the use of cookies
At the first visit of this website, Users are required to express their consent to the use of cookies and similar technologies, and in particular to the registration of such cookies on their local device for the above indicated purposes.

Refusal or withdrawal of consent to cookies
The Users can refuse the use of cookies and at any time can revoke an already given consent. As the cookies are connected to the browser used to access this Website, THEY CAN BE DISABLED DIRECTLY FROM THE BROWSER, thus refusing / revoking the consent to their use.
DISABLING COOKIES MAY PREVENT THE CORRECT USE OF SOME FUNCTIONS OF THE WEBSITE, in particular the services provided by third parties (YouTube, …) may not be accessible, and the embedded videos and images may therefore not be viewable.

1.7 Automated decision making

Neither the IAHCRC Consortium nor the appointed Data Manager use the personal data collected through this website for automated decision making.

1.8 Rights to Personal Data

All Users navigating through this website and presenting their requests through the Contact Page, even those located outside the EU countries, are entitled to exercise all of the following rights as stated in the Italian Privacy Code (Art. 7 D.Lgs. 196/2003) and in the EU GDPR (Art. 15 EU Regulation N. 679/2016):

1. require (i) information as to whether your personal data is retained and (ii) access to and/or duplicates of your personal data retained, including the purposes of the processing, the categories of personal data concerned, and the data recipients as well as potential retention period;
2. request rectification, removal or restriction of your personal data, e.g. because (i) it is incomplete or inaccurate, (ii) it is no longer needed for the purposes for which it was collected, or (iii) the consent on which the processing was based has been withdrawn;
3. refuse to provide and - without impact to data processing activities that have taken place before such withdrawal -- withdraw your consent to processing of your personal data at any time;
4. object, on grounds relating to your particular situation, that your personal data shall be subject to a processing. In this case, please provide IEMEST with information about your particular situation. After the assessment of the facts presented by you, IEMEST will either stop processing your personal data or present you our compelling legitimate grounds for an ongoing processing;
5. take legal actions in relation to any potential breach of your rights regarding the processing of your personal data, as well as to lodge complaints before the competent data protection regulators;
6. require (i) to receive the personal data concerning you, which you have provided to IEMEST, in a structured, commonly used and machine-readable format and (ii) to transmit those data to another controller without hindrance from IEMEST; where technically feasible you shall have the right to have the personal data transmitted directly from IEMEST to another controller; and/or
7. not to be subject to any automated decision making, including profiling (automatic decisions based on data processing by automatic means, for the purpose of assessing several personal aspects) which produce legal effects on you or affects you with similar significance.

Users may (i) exercise the rights referred to above or (ii) pose any questions or (iii) make any complaints regarding their data processing in the IAHCRC-CLOUD Platform by contacting IEMEST using the contact details set out in the next Chapter.
Users located in the EU have the right to make a complaint to the data protection authority of their country of residence, if they believe that IEMEST has not been able to assist with their complaint or concern.

1.9 Contact Info

The Data Controller for this website is the IAHCRC Data Manager, appointed by the Scientific Coordinators of the IAHCRC Consortium to manage it and the data collected through it on an individual, voluntary basis.
The IAHCRC Data Manager, currently in the person of Dr. Maria Rosaria Vavassori, is also the only responsible of the processing of the personal data collected through this website.
She can be contacted at any time through the Contact Page of this website, to exercise the rights as listed in the previous Chapter and for any other request about the IAHCRC Consortium.

1.10 Changes to the Policy and Terms of Use

The Scientific Coordinators of the IAHCRC Consortium, in agreement with the IAHCRC Data Manager, may update this Notice about the Privacy Policy from time to time.
The most current version of the Notice will always be posted on this Website and will govern the collection and processing of the personal information of the users of this website.
This Version V1.2 of the Notice about the Privacy Policy of the IAHCRC Website is the most current and has been updated on June 17th 2019.

RESEARCH PUBLICATIONS AND PRESENTATIONS FROM THE RESEARCHERS OF THE IAHCRC CONSORTIUM

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1.	Mutations du gène ATP1A3 et pathologies neurologiques Lesca G. et al. March 2016 - read the poster presentation
2.	Spontaneously Fluctuating Motor Cortex Excitability in Alternating Hemiplegia of Childhood: A Transcranial Magnetic Stimulation Study Stern WM, Desikan M, Hoad D, Jaffer F, Strigaro G, Sander JW, Rothwell JC, Sisodiya SM. PLoS One. 2016 Mar 21;11(3):e0151667. doi: 10.1371/journal.pone.0151667. eCollection 2016. read the article
3.	Effects of Vagal Nerve Stimulation in Alternating Hemiplegia of Childhood Helseth A, Prange L, Kansagra S, Muh C and Mikati M Neurology April 5, 2016 vol. 86 no. 16 Supplement I15.001. read the article
4.	Motor function domains in alternating hemiplegia of childhood. Masoud M, Gordon K, Hall A, Jasien J, Lardinois K, Uchitel J, Mclean M, Prange L, Wuchich J, Mikati MA Dev Med Child Neurol. 2017 Aug;59(8):822-828. read the article
5.	Diagnosis and Treatment of Alternating Hemiplegia of Childhood Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati MA Curr Treat Options Neurol. 2017 Feb;19(2):8. read the article
6.	Clinical profile of AHC-patients with ATP1A3 mutations in an International Cohort Panagiotakaki E.  et al. Presentation given at the 6th Symposium on ATP1A3 in Disease (Tokyo, 21 - 22 September 2017) read the presentation
7.	The epileptology of alternating hemiplegia of childhood Uchitel J, Helseth A, Prange L, McLean M, Ghusayni R, Sachdev M, Hunanyan A, Mikati MA Neurology. 2019 Sep 24;93(13):e1248-e125 read the article
8.	White matter and cerebellar involvement in alternating hemiplegia of childhood Severino M, Pisciotta L, Tortora D, Toselli B, Stagnaro M, Cordani R, Morana G, Zicca A, Kotzeva S, Zanaboni C, Montobbio G, Rossi A, De Grandis E; IBAHC Consortium J Neurol. 2020 Jan 16. doi: 10.1007/s00415-020-09698-3 read the article
9.	Social impairments in alternating hemiplegia of childhood Uchitel J, Abdelnour E, Boggs A, Prange L, Pratt M, Bonner M, Jasien J, Dawson G, Abrahamsen T, Mikati MA Dev Med Child Neurol. 2020 Feb 7. doi: 10.1111/dmcn read the article
10.	Magnetic Resonance Imaging Volumetric Analysis in Patients with Alternating Hemiplegia of Childhood: A Pilot Study Ghusaynia R, Richardson JP,Uchitel J, Abdelnour E, McLean M, Prange L, Abrahamsen T, Song A, Petrella JR, Mikati MA EJ Paed Neurol. 2020 Feb 13. doi: 10.1016/j.ejpn.2020.02.001 read the article
11.	Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A; AHC–Movement Disorder Study Group Neurology. 2020 Mar 2. doi: 10.1212/WNL.0000000000009175 read the article
12.	Epilepsy and cannabidiol: a guide to treatment Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators Epileptic Disord. 2020 Feb 1. doi: 10.1684/epd.2020.1141 read the article Epilepsy and cannabinoids Scientific Committee: Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Thiele EA Epileptic Disord. Volume 22, Supplement 1, January 2020 read the article
13.	COVID-19: General advice for persons with epilepsy ERN EpiCARE Steering Committee 2020 Mar 30. Available in many languages read the document
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 Panagiotakaki E, Arzimanoglou A Eur J Paediatr Neurol. 2020 Apr 22. doi: 10.1016/j.ejpn.2020.04.010 read the article
15.	Characterization of Severe and Extreme Behavioral Problems in Patients with Alternating Hemiplegia of Childhood Wallace K, Uchitel J, Prange L, Jasien J, Bonner M, D'Alli R, Maslow G, Mikati MA Paediatr Neurol. 2020 June 27. doi: 10.1016/j.pediatrneurol.2020.06.012 read the article
16.	Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments Pratt M, Uchitel J, McGreal N, Gordon K, Prange L, McLean M, Noel RJ, Rikard B, Rogers Boruta MK, Mikati MA Orphanet J Rare Dis. 2020 Sep 3. doi: 10.1186/s13023-020-01474-w read the article
17.	Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study Balestrini S, Mikati MA, Reyes Alvarez Garcia-Roves, Carboni M, Hunanyan AS, Kherallah B, Melissa McLean M, Lyndsey Prange L, Elisa De Grandis E, Alessandra Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM Neurology. 2020 Sep 10. doi: 10.1212/WNL.0000000000010794 read the article
18.	RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood Zagaglia S, Steel S, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA Neurology. 2021 Jan 27. doi: 10.1212/WNL.0000000000011543 read the article
19.	Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood. Hunanyan AS, Kantor B, Puranam RS, Elliott C, McCall A, Dhindsa J, Pagadala P, Wallace K, Poe J, Gunduz T, Asokan A, Koeberl DD, ElMallah MK, Mikati MA Hum Gene Ther. 2021 Feb 12. doi: 10.1089/hum.2020.191. read the article
20.	ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini P, Powis Z, Møller RS, Bellan C, imonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Atp A/ A-Collaborators, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R Brain. 2021 Apr 21. doi: 10.1093/brain/awab052. Online ahead of print. read the article
21.	Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients. Cordani R, Stagnaro M, Pisciotta L, Tiziano FD, Calevo MG, Nobili L, I.B.AHC Consortium; De Grandis E Front Neurol. 2021 Apr 8;12:658451. doi: 10.3389/fneur.2021.658451. read the article
22.	Revision of the diagnostic criteria of alternating hemiplegia of childhood. Mikati MA, Panagiotakaki E, Arzimanoglou A Eur J Paediatr Neurol. 2021 May 3. doi: 10.1016/j.ejpn.2021.05.004. read the article
23.	Alternating hemiplegia of childhood: evolution over time and mouse model corroboration Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons C, De Grandis, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R, The Duke AHC Research Group, The French AHC Consortium, Arzimanoglou A , Panagiotakaki E, Mikati MA Brain Communications, Volume 3, Issue 3, 2021 Jun 4. doi: 10.1093/braincomms/fcab128 read the article
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 Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, de Lisle Dear G, Carboni MP, Idriss SF, Mikati MA, Landstrom AP J Am Heart Assoc. 2021 Sep 7;32:A4-A5. doi: 10.1161/JAHA.120.019887 read the article
25.	Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia Poole J, Zagaglia S, Demurtas R, Farrell F, Walker MC, Sanjay M Sisodiya SM, Simona Balestrini S, Vivekananda U PLoS One 2022 Sep 30;17(9):e0268720. doi: 10.1371/journal.pone.0268720 read the article
26.	The Phenotypic Continuum of ATP1A3-Related Disorders Vezyroglou A, Akilapa R, Barwick B, 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 Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927 read the article
27.	Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood? Welniarz Q, Gras D, Roubertie A, Papadopoulou MT, Panagiotakaki E, Roze E Mov Disord. 2023 Feb 16. doi: 10.1002/mds.29357 read the article
28.	Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood Sentmanat MK, Papadopoulou MT, Prange L, Fons C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S; IAHCRC OBSERV-AHC Study Group; Arzimanoglou A, Vavassori R, Panagiotakaki E, Mikati MA Eur J Paediatr Neurol. 2023 Aug 4;46:98-107. doi: 10.1016/j.ejpn.2023.07.005 read the article
29.	Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood Papadopoulou MT, Welniarz Q, Roubertie A, Gras D, Milh M, Panagiotakaki E, Roze E Mov Disord. 2023 Sep;38(9):1759-1761. doi: 10.1002/mds.29561. read the article
30.	Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease Patel SH, Panagiotakaki E, Papadopoulou MT, Fons C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R, Mikati MA J Child Neurol. 2023 Sep 20;8830738231197861. doi: 10.1177/08830738231197861 read the article
31.	Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood Thamby J, Prange L, Boggs A, Subei MO, Myers C, Uchitel J, ElMallah M, Bartlett-Lee B, Riviello JJ, Mikati MA Eur J Paediatr Neurol. 2023 Dec 10:48:101-108. doi: 10.1038/s41431-023-01489-4 read the article
32.	Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat A, Des Portes V, Lépine A, Nassogne M, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL Eur J Hum Genet. Epub 2023 Dec 14. doi: 10.1016/j.ejpn.2023.12.002 read the article
33.	Real life retrospective study of cannabidiol therapy in alternating hemiplegia of childhood Patel S, Maney K, Morris L, Papadopoulou MT, Prange L, Boggs A, Hunanyan A, Megvinov A, Vavassori R, Panagiotakaki E, Mikati MA Eur J Paediatr Neurol. 2024 Feb 12. doi: 10.1016/j.ejpn.2024.02.004 read the article

 

 

ORIGINAL RESEARCH PUBLICATIONS ON ALTERNATING HEMIPLEGIA OF CHILDHOOD

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1.	SUMMARY OF ORIGINAL ARTICLES ON ALTERNATING HEMIPLEGIA OF CHILDHOOD JANUARY - APRIL 2015 Written by M. Mikati - read
2.	SUMMARY OF ORIGINAL ARTICLES ON ALTERNATING HEMIPLEGIA OF CHILDHOOD MAY - AUGUST 2015 Written by M. Mikati - read
3.	SUMMARY OF ORIGINAL ARTICLES ON ALTERNATING HEMIPLEGIA OF CHILDHOOD SEPTEMBER - DECEMBER 2015 Written by M. Mikati - read