Literature DB >> 29477659

Fever-Induced Paroxysmal Weakness and Encephalopathy (FIPWE)-Part of a Phenotypic Continuum in Patients With ATP1A3 Mutations?

Deborah A Sival1, Fleur Vansenne2, Annemieke H Van der Hout2, Marina A J Tijssen3, Tom J de Koning4.   

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Year:  2017        PMID： 29477659     DOI： 10.1016/j.pediatrneurol.2017.12.009

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  3 in total

1.  Genetically altered animal models for ATP1A3-related disorders.

Authors:  Hannah W Y Ng; Jennifer A Ogbeta; Steven J Clapcote
Journal:  Dis Model Mech       Date:  2021-10-06       Impact factor: 5.732

Review 2.  The Phenotypic Continuum of ATP1A3-Related Disorders.

Authors:  Aikaterini Vezyroglou; Rhoda Akilapa; Katy Barwick; Saskia Koene; Catherine A Brownstein; Muriel Holder-Espinasse; Andrew E Fry; Andrea H Németh; George K Tofaris; Eleanor Hay; Imelda Hughes; Sahar Mansour; Santosh R Mordekar; Miranda Splitt; Peter D Turnpenny; Demetria Demetriou; Tamara T Koopmann; Claudia A L Ruivenkamp; Pankaj B Agrawal; Lucinda Carr; Virginia Clowes; Neeti Ghali; Susan Elizabeth Holder; Jessica Radley; Alison Male; Sanjay M Sisodiya; Manju A Kurian; J Helen Cross; Meena Balasubramanian
Journal:  Neurology       Date:  2022-07-18       Impact factor: 11.800

Review 3.  Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Authors:  Mateusz Biela; Malgorzata Rydzanicz; Krystyna Szymanska; Karolina Pieniawska-Smiech; Aleksandra Lewandowicz-Uszynska; Joanna Chruszcz; Lucyna Benben; Malgorzata Kuzior-Plawiak; Pawel Szyld; Aleksandra Jakubiak; Leszek Szenborn; Rafal Ploski; Robert Smigiel
Journal:  Mol Genet Genomic Med       Date:  2021-08-02       Impact factor: 2.183
  3 in total

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