ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with s...
ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype
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Publisher
Oxford: John Wiley & Sons, Inc
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Language
English
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Publisher
Oxford: John Wiley & Sons, Inc
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Scope and Contents
Contents
Objective
We present the cases of two sisters, both harboring the same ALDH18A1 gene mutations, who presented with a complex clinical phenotype characterized by spastic paraparesis with ataxia, epileptic encephalopathy, severe psychomotor deficits, and behavioral abnormalities.
Methods
Case description of two sisters with ALDH18A1 gene mut...
Alternative Titles
Full title
ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_95eb6fea03194908b42f26f26600759b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_95eb6fea03194908b42f26f26600759b
Other Identifiers
ISSN
2831-3267,1755-5930
E-ISSN
2831-3267,1755-5949
DOI
10.1002/cns3.20056
