CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 123-127, 2018.
Article
de En
| WPRIM
| ID: wpr-728852
Bibliothèque responsable:
WPRO
ABSTRACT
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Atrophie
/
Crises épileptiques
/
Troubles de la vision
/
Encéphale
/
Céroïde
/
Maladies neurodégénératives
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Épilepsies myocloniques progressives
/
Asiatiques
/
Lysosomes
/
Myoclonie
Limites du sujet:
Child
/
Female
/
Humans
langue:
En
Texte intégral:
Journal of the Korean Child Neurology Society
Année:
2018
Type:
Article