Publications - IAHCRC Researchers

Mutations du gène ATP1A3 et pathologies neurologiques
Lesca G. et al.

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.

Effects of Vagal Nerve Stimulation in Alternating Hemiplegia of Childhood
Helseth A, Prange L, Kansagra S, Muh C and Mikati M

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

Diagnosis and Treatment of Alternating Hemiplegia of Childhood
Masoud M, Prange L, Wuchich J, Hunanyan A, Mikati MA

Clinical profile of AHC-patients with ATP1A3 mutations in an International Cohort
Panagiotakaki E.  et al.

The epileptology of alternating hemiplegia of childhood
Uchitel J, Helseth A, Prange L, McLean M, Ghusayni R, Sachdev M, Hunanyan A, Mikati MA

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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