Jamie Talbot Priyanka Singh Clinda Puvirajasinghe Genomics England Research Consortiumgecip-help@genomicsengland.co.uk Sanjay M Sisodiya Fergus Rugg-Gunn
10.1016/j.ebr.2020.100389
Epilepsy Behav Rep
2020 Aug 31;14:100389.
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
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/33024953/
Case Reports
PMC7528204
33024953
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association
2020