Literature DB >> 28337648

Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

Melanie Masoud1, Lyndsey Prange1, Jeffrey Wuchich2, Arsen Hunanyan1, Mohamad A Mikati3.   

Abstract

OPINION STATEMENT: The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not. It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. The clinic is staffed with physicians and experts from Neurology, Cardiology, Child Behavioral Health, Medical Genetics, Neurodevelopment, Neuropsychology, Nursing, Physical and Occupational Therapies, Psychiatry, Sleep Medicine, and Speech/Language Pathology. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments.

Entities:  

Keywords:  ATP1A3; Alternating hemiplegia of childhood; Diagnosis; Flunarizine; Hemiplegia; Treatment

Year:  2017        PMID: 28337648     DOI: 10.1007/s11940-017-0444-7

Source DB:  PubMed          Journal:  Curr Treat Options Neurol        ISSN: 1092-8480            Impact factor:   3.598


  45 in total

1.  A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

Authors:  M T Bassi; N Bresolin; A Tonelli; K Nazos; F Crippa; C Baschirotto; C Zucca; A Bersano; D Dolcetta; F M Boneschi; V Barone; G Casari
Journal:  J Med Genet       Date:  2004-08       Impact factor: 6.318

2.  ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment?

Authors:  Virginia C N Wong; Anna K Y Kwong
Journal:  Brain Dev       Date:  2015-02-07       Impact factor: 1.961

3.  Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Authors:  Eleni Panagiotakaki; Giuseppe Gobbi; Brian Neville; Friedrich Ebinger; Jaume Campistol; Sona Nevsímalová; Laura Laan; Paul Casaer; Georg Spiel; Melania Giannotta; Carmen Fons; Miriam Ninan; Guenter Sange; Tsveta Schyns; Rosaria Vavassori; Dominique Poncelin; Alexis Arzimanoglou
Journal:  Brain       Date:  2010-10-24       Impact factor: 13.501

Review 4.  Alternating hemiplegia of childhood.

Authors:  Sujay Kansagra; Mohamad A Mikati; Federico Vigevano
Journal:  Handb Clin Neurol       Date:  2013

5.  Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Authors:  Alex R Paciorkowski; Sharon S McDaniel; Laura A Jansen; Hannah Tully; Emily Tuttle; Dalia H Ghoneim; Srinivasan Tupal; Sonya A Gunter; Valeria Vasta; Qing Zhang; Thao Tran; Yi B Liu; Laurie J Ozelius; Allison Brashear; Kathleen J Sweadner; William B Dobyns; Sihoun Hahn
Journal:  Epilepsia       Date:  2015-02-05       Impact factor: 5.864

6.  [Acute hemiplegia in childhood and alternating hemiconvulsions secondary to Moya-Moya disease. Report of a case associated with Down's syndrome].

Authors:  J O Cornelio-Nieto; G Dávila-Gutiérrez; R Ferreyro-Irigoyen; H Alcalá
Journal:  Bol Med Hosp Infant Mex       Date:  1990-01

Review 7.  Alternating hemiplegia of childhood.

Authors:  M Bourgeois; J Aicardi; F Goutières
Journal:  J Pediatr       Date:  1993-05       Impact factor: 4.406

8.  Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

Authors:  Marta Vila-Pueyo; Roser Pons; Miquel Raspall-Chaure; Anna Marcé-Grau; Oriel Carreño; Cèlia Sintas; Bru Cormand; Mercè Pineda-Marfà; Alfons Macaya
Journal:  J Neurol Sci       Date:  2014-06-17       Impact factor: 3.181

9.  A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.

Authors:  M A Mikati; H Maguire; C F Barlow; L Ozelius; X O Breakefield; S M Klauck; B Korf; S L O'Tuama; F Dangond
Journal:  Neurology       Date:  1992-12       Impact factor: 9.910

10.  Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.

Authors:  Jun Ju; Shinichi Hirose; Xiu-Yu Shi; Atsushi Ishii; Lin-Yan Hu; Li-Ping Zou
Journal:  Orphanet J Rare Dis       Date:  2016-05-04       Impact factor: 4.123

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  10 in total

1.  Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.

Authors:  Sujay Kansagra; Ryan Ghusayni; Bassil Kherallah; Talha Gunduz; Melissa McLean; Lyndsey Prange; Richard M Kravitz; Mohamad A Mikati
Journal:  J Clin Sleep Med       Date:  2019-01-15       Impact factor: 4.062

2.  D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Authors:  Lyndsey Prange; Milton Pratt; Kristin Herman; Raphael Schiffmann; David M Mueller; Melissa McLean; Mary Moya Mendez; Nicole Walley; Erin L Heinzen; David Goldstein; Vandana Shashi; Arsen Hunanyan; Vijay Pagadala; Mohamad A Mikati
Journal:  Neurol Genet       Date:  2020-08-04

3.  Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Authors:  Arsen S Hunanyan; Boris Kantor; Ram S Puranam; Courtney Elliott; Angela McCall; Justin Dhindsa; Promila Pagadala; Keri Wallace; Jordan Poe; Talha Gunduz; Aravind Asokan; Dwight D Koeberl; Mai K ElMallah; Mohamad A Mikati
Journal:  Hum Gene Ther       Date:  2021-02-12       Impact factor: 5.695

4.  Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.

Authors:  Naveen Kumar Bhardwaj; Vykuntaraju K Gowda; Ashwin Vivek Sardesai
Journal:  J Pediatr Genet       Date:  2020-08-13

5.  Alternating Hemiplegia of Childhood: gastrointestinal manifestations and correlation with neurological impairments.

Authors:  Milton Pratt; Julie Uchitel; Nancy McGreal; Kelly Gordon; Lyndsey Prange; Melissa McLean; Richard J Noel; Blaire Rikard; Mary K Rogers Boruta; Mohamad A Mikati
Journal:  Orphanet J Rare Dis       Date:  2020-09-03       Impact factor: 4.123

6.  De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.

Authors:  Danping Huang; Min Liu; Hongying Wang; Bingbing Zhang; Dongjing Zhao; Weihao Ling; Manli Wang; Jun Feng; Yiping Shen; Xuqin Chen
Journal:  BMC Med Genomics       Date:  2021-04-01       Impact factor: 3.063

7.  ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.

Authors:  Mary E Moya-Mendez; Chiagoziem Ogbonna; Jordan E Ezekian; Michael B Rosamilia; Lyndsey Prange; Caridad de la Uz; Jeffrey J Kim; Taylor Howard; John Garcia; Robert Nussbaum; Rebecca Truty; Thomas E Callis; Emily Funk; Matthew Heyes; Guy de Lisle Dear; Michael P Carboni; Salim F Idriss; Mohamad A Mikati; Andrew P Landstrom
Journal:  J Am Heart Assoc       Date:  2021-08-28       Impact factor: 5.501

8.  Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Authors:  Patricio Millar Vernetti; María Agustina Ruiz Yanzi; Malco Rossi; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-20

9.  Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.

Authors:  Cliona Buckley; Jennifer Williams; Tudor Munteanu; Mary King; Su Mi Park; Andrea L Meredith; Timothy Lynch
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-10-27

10.  Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Authors:  Simona Balestrini; Mohamad A Mikati; Reyes Álvarez-García-Rovés; Michael Carboni; Arsen S Hunanyan; Bassil Kherallah; Melissa McLean; Lyndsey Prange; Elisa De Grandis; Alessandra Gagliardi; Livia Pisciotta; Michela Stagnaro; Edvige Veneselli; Jaume Campistol; Carmen Fons; Leticia Pias-Peleteiro; Allison Brashear; Charlotte Miller; Raquel Samões; Vesna Brankovic; Quasar S Padiath; Ana Potic; Jacek Pilch; Aikaterini Vezyroglou; Ann M E Bye; Andrew M Davis; Monique M Ryan; Christopher Semsarian; Georgina Hollingsworth; Ingrid E Scheffer; Tiziana Granata; Nardo Nardocci; Francesca Ragona; Alexis Arzimanoglou; Eleni Panagiotakaki; Inês Carrilho; Claudio Zucca; Jan Novy; Karolina Dzieżyc; Marek Parowicz; Maria Mazurkiewicz-Bełdzińska; Sarah Weckhuysen; Roser Pons; Sergiu Groppa; Daniel S Sinden; Geoffrey S Pitt; Andrew Tinker; Michael Ashworth; Zuzanna Michalak; Maria Thom; J Helen Cross; Rosaria Vavassori; Juan P Kaski; Sanjay M Sisodiya
Journal:  Neurology       Date:  2020-09-10       Impact factor: 11.800

  10 in total

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