Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.
Epilepsy Behav Rep
; 14: 100389, 2020.
Article
in En
| MEDLINE
| ID: mdl-33024953
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
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Prognostic_studies
/
Risk_factors_studies
Language:
En
Journal:
Epilepsy Behav Rep
Year:
2020
Type:
Article
Affiliation country:
United kingdom