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. 2021 May-Jun;24(3):449-450.
doi: 10.4103/aian.AIAN_495_20. Epub 2021 Jan 25.

Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series

Affiliations

Variable Phenotypes in Alternating Hemiplegia of Childhood: A Genetically Proven Case Series

Smilu Mohanlal et al. Ann Indian Acad Neurol. 2021 May-Jun.
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Clinical exome revealed a heterozygous class II variation (c. 2440G > A/p. Asp814Asn) in exon 7 of ATP1A3 gene
Figure 2
Figure 2
EEG showing bilateral frontal epileptiform abnormalities

References

    1. Algahtani H, Ibrahim B, Shirah B, Aldarmahi A, Abdullah A. More than a decade of misdiagnosis of alternating hemiplegia of childhood with catastrophic outcome. Case Rep Med. 2017;2017:5769837. - PMC - PubMed
    1. Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, et al. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. Orphanet J Rare Dis. 2015;10:123. - PMC - PubMed
    1. Stagnaro M, Pisciotta L, Gherzi M, Di Rocco M, Gurrieri F, Parrini E, et al. ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. Eur J Paediatr Neurol. 2018;22:264–71. - PubMed
    1. Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, et al. An infant with epilepsy and recurrent hemiplegia due to compound heterozygous variants in ATP1A2. Pediatr Neurol. 2017;75:87–90. - PubMed
    1. Kansagra S, Mikati MA, Vigevano F. Alternating hemiplegia of childhood. Handb Clin Neurol. 2013;112:821–6. - PubMed