Literature DB >> 28138908

Alternating Hemiplegia of Childhood with Novel Features.

Hansashree Padmanabha1, Jyotindra Nr Goswami1, Jitendra Kumar Sahu1, Kathryn J Swaboda2, Pratibha Singhi3.   

Abstract

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Year:  2017        PMID： 28138908     DOI： 10.1007/s12098-017-2290-8

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  4 in total

1.  Recognizable facial features in patients with alternating hemiplegia of childhood.

Authors:  Fiorella Gurrieri; Francesco Danilo Tiziano; Giuseppe Zampino; Giovanni Neri
Journal:  Am J Med Genet A       Date:  2016-06-17       Impact factor: 2.802

2.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Authors:  Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda
Journal:  PLoS One       Date:  2015-05-21       Impact factor: 3.240

3.  De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Authors:  Erin L Heinzen; Kathryn J Swoboda; Yuki Hitomi; Fiorella Gurrieri; Sophie Nicole; Boukje de Vries; F Danilo Tiziano; Bertrand Fontaine; Nicole M Walley; Sinéad Heavin; Eleni Panagiotakaki; Stefania Fiori; Emanuela Abiusi; Lorena Di Pietro; Matthew T Sweney; Tara M Newcomb; Louis Viollet; Chad Huff; Lynn B Jorde; Sandra P Reyna; Kelley J Murphy; Kevin V Shianna; Curtis E Gumbs; Latasha Little; Kenneth Silver; Louis J Ptáček; Joost Haan; Michel D Ferrari; Ann M Bye; Geoffrey K Herkes; Charlotte M Whitelaw; David Webb; Bryan J Lynch; Peter Uldall; Mary D King; Ingrid E Scheffer; Giovanni Neri; Alexis Arzimanoglou; Arn M J M van den Maagdenberg; Sanjay M Sisodiya; Mohamad A Mikati; David B Goldstein
Journal:  Nat Genet       Date:  2012-07-29       Impact factor: 38.330

4.  Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Authors:  Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje de Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Fiorella Gurrieri; Danilo Tiziano; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M J M van den Maagdenberg; Mohamad Mikati; David B Goldstein; Rosaria Vavassori; Alexis Arzimanoglou
Journal:  Orphanet J Rare Dis       Date:  2015-09-26       Impact factor: 4.123
  4 in total
  2 in total

1.  Topiramate Therapy in Alternating Hemiplegia of Childhood.

Authors:  Ananthanarayanan Kasinathan; Indar Kumar Sharawat; Jitendra Kumar Sahu; Naveen Sankhyan
Journal:  Indian J Pediatr       Date:  2017-05-13       Impact factor: 1.967

2.  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
  2 in total

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