Table 1.
Clinical information of participants in our study. We analyzed the progression of Lafora disease in patients treated with metformin (a) and without metformin (b)
| a | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Gene | DNA mutation | Protein mutation | Age of onset (years) | Duration of evolution (years) | Comorbidity | Additional treatments | Neuroimaging | Data published | Metformin dose | Side effects |
| P1 | EPM2A | c.877C > T Homozygous (exon 4) | Gln293Ter | 10 | 9 | - | VPA, CZP, PER | Normal | - | 850 mg/12 h | - |
| P2 | EPM2B | c.203G > A Homozygous | Cys68Tyr | 14 | 6 | - | LEV, CZP, VPA | Venous angioma (no related with Lafora disease) | - | 850 mg/12 h | - |
| P3 | EPM2B | c.203G > A Homozygous | Cys68Tyr | 13 | 3 | - | LEV (inicio M12) | Normal | - | 850 mg/12 h—> 850 mg/d | Diarrhea |
| P4 | EPM2B | c.348C > A, Homozygous | Cys116Ter | 13 | 5 | - | VPA, LEV, CZP, ZNS | Normal | - | 1000 mg/12 h | - |
| P5 | EPM2B | c.468_469del/c.203G > T | p.G158Rfs*17/p.C68F | 10 | 5 | - | BRV (started at M12) | Nonexistent | - | 850 mg/d | Diarrhea |
| P6 | EPM2A | non-sens c.721 C > T (exon4), del exon 2 | p.Arg241*/Ex2del | 15 | 9 | - | CBD, ZNS, CLN, PER | Normal | - | 500 mg/8 h | - |
| P7 | EPM2A | non-sens c.721 C > T (exon4), del exon 2 | p.Arg241*/Ex2del | 13 | 5 | - | VPA, PER, TPM, CBD | Normal | - | 500 mg/8 h | - |
| P8 | EPM2A | c.512G > A | Arg171His | 14 | 4 | - | LZP, BRV, PER, ZNS, CBD | Normal | - | 500 mg/d—> 500 mg/8 h since M6 | - |
| b | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Gene | DNA mutation | Protein mutation | Age of onset (years) | Duration of evolution (years) | Comorbidity | Additional treatments | Neuroimaging | Data published | Metformin dose | Side effects |
| P9 | EPM2A | c.508C > Tp Homozygous | Pro170Ser | 9 | 11 | PER, BRV, CLB | Nonexistent | On metformin for 3 weeks and stopped the treatment | |||
| P10 | ? (pending, positive biopsia) | ? | ? | 13 | 6 | PHT, CZP, LTG | Normal | ||||
| P11 | EPM2A | c.322 C > T Homozygous | Arg108Cys | 13 | 4 | PER, PB, VPA, ZNS, piracetam | Temporal arachnoid cysts (not related with Lafora disease, asymptomatic) | ||||
| P12 | EPM2B | c.656 G > A / c.451 G > T | Trp219Ter / Val151Phe | 10 | 10 | Febrile seizure at 12 months | LEV, CLB, ZNS, VPA, CZP, PER, risperidone | Mild brain atrophy | |||
| P13 | EPM2A | c.98_121del Homozygous | Glu33_Arg41delinsGly | 16 | 4 | CZP, BRV, citalopram | Nonexistent | ||||
| P14 | EPM2A | c.290 T > G Homozygous | Leu97Arg | 14 | 14 | LEV, BRV, CLB, VPA, stiripentol, CZP, aripiprazole | Normal | https://doi.org/10.1186/s42466-019-0040-2 | On metformin for 3–4 months | ||
| P15 | EPM2A | c.721 C > T / c.487 A > G | R241X / N163D | 14 | 10 | no | CLB, VPA, ZNS, LEV, PER | Normal | |||
| P16 | EPM2A | c.70 G > C Homozygous | Gly24Arg | 10 | 10 | Febrile seizure at 12 months | LEV | Normal | |||
| P17 | EPM2A | c.163 C > T Homozygous | p.Gln55Ter | 10 | 3 | no | VPA | Nonexistent | |||
| P18 | EPM2A | c.721 C > T Homozygous | R241X | 12 | 5 | no | PER, BRV, VPA, CLB, CLN | Normal |
BRV brivaracetam, CBD cannabidiol, CLB clobazam, CZP clozapine, LEV levetiracetam, LTG lamotrigine, LZP lorazepam, PER perampanel, PHT phenytoin, TPM topiramate, VPA valproic acid, ZNS zonisamide