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. Author manuscript; available in PMC: 2020 Jun 11.
Published in final edited form as: Seizure. 2019 Aug 23;71:247–257. doi: 10.1016/j.seizure.2019.08.012

Table 2.

Molecular genetics of PME.

DISEASE INHERITANCE CHROMOSOME LOCUS GENE PROTEIN FUNCTION
ULD AR Ch21q22.3 CSTB Cystatin B Cysteine protease inhibitor
LD AR Ch6q24 Ch6p22 EPM2A EPM2B Laforin Malin Dual specificity protein tyrosine phosphatase
MERRF Maternal Mitochondrial DNA MTTK tRNALys Mitochondrial function and metabolism
NCL Classical late infantile AR Ch11p15 TPP1 Tripeptidyl peptidase 1 -
Juvenile AR Ch6p CLN3 - -
Adult (Kufs disease) AR/AD - - - -
Finnish-variant late infantile AR Ch13q21-q32 CLN5 - -
Variant late infantile AR Ch15q21–23 CLN6 - -
Sialidosis Type I AR Ch6p21.3 NEU1 Sialidase 1 -
Type II AR Ch20 NEU1 Sialidase 1 -

Abbreviations: MERRF myoclonic epilepsy with ragged red fibres; NCL neuronal ceroid lipofuscinoses; DRPLA dentatorubral-pallidoluysian atrophy; AR autosomal recessive; AD Autosomal dominant; - unknown.