Publications - IAHCRC Researchers

RESEARCH PUBLICATIONS AND PRESENTATIONS FROM THE RESEARCHERS OF THE IAHCRC CONSORTIUM


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.
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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.
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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.
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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.
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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
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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
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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
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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
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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
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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
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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
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13.

COVID-19: General advice for persons with epilepsy
ERN EpiCARE Steering Committee

2020 Mar 30. Available in many languages
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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
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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
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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
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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
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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
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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.
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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.
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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.
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22.

Revision of the diagnostic criteria of alternating hemiplegia of childhood.
Mikati MA, Panagiotakaki E, Arzimanoglou A

Eur J Paediatr Neurol. 2021 May;32:A4-A5. doi: 10.1016/j.ejpn.2021.05.004.
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IAHCRC - International Consortium for the Research on Alternating Hemiplegia of Childhood and other ATP1A3 related diseases