Literature DB >> 19996082

Glut1 deficiency and alternating hemiplegia of childhood.

M Rotstein1, J Doran, H Yang, P M Ullner, K Engelstad, D C De Vivo.   

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Year:  2009        PMID： 19996082      PMCID： PMC2796456          DOI： 10.1212/WNL.0b013e3181c55ebf

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Glut1 deficiency: CSF glucose. How low is too low?

Authors:  D C De Vivo; D Wang
Journal:  Rev Neurol (Paris)       Date:  2008-11-05       Impact factor: 2.607

2.  Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.

Authors:  Dong Wang; Juan M Pascual; Hong Yang; Kristin Engelstad; Sarah Jhung; Ruo Peng Sun; Darryl C De Vivo
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

3.  Imaging the metabolic footprint of Glut1 deficiency on the brain.

Authors:  Juan M Pascual; Ronald L Van Heertum; Dong Wang; Kristin Engelstad; Darryl C De Vivo
Journal:  Ann Neurol       Date:  2002-10       Impact factor: 10.422

4.  Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

Authors:  Kathryn J Swoboda; Emmanuel Kanavakis; Athina Xaidara; Justine E Johnson; Mark F Leppert; Mylynda B Schlesinger-Massart; Louis J Ptacek; Kenneth Silver; Sotiris Youroukos
Journal:  Ann Neurol       Date:  2004-06       Impact factor: 10.422

5.  Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood.

Authors:  Masayuki Sasaki; Hiroshi Sakuma; Ai Fukushima; Ken-ichi Yamada; Takashi Ohnishi; Hiroshi Matsuda
Journal:  Brain Dev       Date:  2008-05-19       Impact factor: 1.961

6.  CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

Authors:  B de Vries; A H Stam; F Beker; A M J M van den Maagdenberg; K R J Vanmolkot; Laem Laan; I B Ginjaar; R R Frants; H Lauffer; J Haan; J P Haas; G M Terwindt; M D Ferrari
Journal:  Cephalalgia       Date:  2008-05-21       Impact factor: 6.292

7.  Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome.

Authors:  Matthew T Sweney; Kenneth Silver; Marion Gerard-Blanluet; Jean-Michel Pedespan; Francis Renault; Alexis Arzimanoglou; Mylynda Schlesinger-Massart; Aga J Lewelt; Sandra P Reyna; Kathryn J Swoboda
Journal:  Pediatrics       Date:  2009-03       Impact factor: 7.124
  7 in total
  7 in total

1.  No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.

Authors:  C Le Bizec; S Nicole; E Panagiotakaki; N Seta; S Vuillaumier-Barrot
Journal:  JIMD Rep       Date:  2013-09-04

Review 2.  The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Authors:  Matthew T Sweney; Tara M Newcomb; Kathryn J Swoboda
Journal:  Pediatr Neurol       Date:  2014-10-13       Impact factor: 3.372

Review 3.  Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.

Authors:  Janina Gburek-Augustat; Anja Heinze; Rami Abou Jamra; Andreas Merkenschlager
Journal:  Mov Disord Clin Pract       Date:  2020-10-06

Review 4.  Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

Authors:  Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

5.  Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Authors:  Anne Roubergue; Bertrand Philibert; Agnès Gautier; Alice Kuster; Karine Markowicz; Thierry Billette de Villemeur; Sandrine Vuillaumier-Barrot; Sophie Nicole; Emmanuel Roze; Diane Doummar
Journal:  JIMD Rep       Date:  2014-02-16

Review 6.  Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Authors:  Piero Pavone; Xena Giada Pappalardo; Martino Ruggieri; Raffaele Falsaperla; Enrico Parano
Journal:  Medicine (Baltimore)       Date:  2022-08-05       Impact factor: 1.817

7.  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
  7 in total

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