Moyamoya and progressive myoclonic epilepsy secondary to
ANCL
ANCL, adult neuronal ceroid lipofuscinosis
BMIPB, the Brain Injury Rehabilitation Trust Memory and Information Processing Battery
CLN6
Kufs disease
LINCL, late-infantile neuronal ceroid lipofuscinosis
MERRF, mitochondrial epilepsy with ragged red fibres
Moyamoya
NCL
NCL, neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis
PPT1, palmitoyl-protein thioesterase 1
SEP, somatosensory evoked potentials
TPP1, tripeptidyl peptidase 1
WAIS-IV, Wechsler Adult Intelligence Scale (4th edition)
Wiegl, Weigl Color Form Sorting Test
mtDNA, mitochondrial DNA
Journal
Epilepsy & behavior reports
ISSN: 2589-9864
Titre abrégé: Epilepsy Behav Rep
Pays: United States
ID NLM: 101750909
Informations de publication
Date de publication:
2020
2020
Historique:
received:
20
05
2020
revised:
29
07
2020
accepted:
01
08
2020
entrez:
7
10
2020
pubmed:
8
10
2020
medline:
8
10
2020
Statut:
epublish
Résumé
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic epilepsy. Mutations in at least thirteen genes have been identified as causes of NCL, which can present as infantile, late-infantile, juvenile or adult forms.
Identifiants
pubmed: 33024953
doi: 10.1016/j.ebr.2020.100389
pii: S2589-9864(20)30037-X
pmc: PMC7528204
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100389Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
None.
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