Table 1.
Clinical and genetic features in 11 individuals with DNM1-related disorders
| Age at last eval. | Sex | Variant | Exon | Epilepsy/ seizure types | Age of seizure onset | Developmental features | Other notable features | EEG features | MRI features | |
|---|---|---|---|---|---|---|---|---|---|---|
| Individual 1 | 2 years | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | CE, ES, MS, SS, refractory | 2 months | profound DD, GMFCS V, CFCS V, MiniMACS V | dystonic movement disorder, profound hypotonia, CVI | Hx of HA, multifocal SW, poorly organized background | markedly decreased cerebral volume, deficiency of WM, small brainstem and CC |
| Individual 2 | 2 years | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | CE, ES, refractory | 2 months | profound DD, GMFCS V, CFCS V, MiniMACS V | profound hypotonia, CVI, significant irritability | Hx of HA, multifocal SW, poorly organized background, excessive discontinuity | normal at 1 year |
| Individual 3 | 3 years | female | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | ES, refractory | 2.5 months | profound DD, GMFCS V, CFCS V, MiniMACS V | profound hypotonia, CVI | not available | not available |
| Individual 4 | 7 years | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | ES, FE, refractory initially, now SF | 6 months | severe DD, GMFCS V, CFCS IV | profound hypotonia, CVI | Hx of HA | hypoplasia of CC and enlarged ventricles |
| Individual 5 | 2 years | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | ES, refractory | 2 months | profound DD, GMFCS V, CFCS V, MiniMACS V | profound hypotonia, CVI, nystagmus, pupils nonreactive | Hx of HA, multifocal discharges | normal at 6 months |
| Individual 6 | 2 years | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | ES, refractory | 2 months | profound DD, GMFCS V, CFCS V, MiniMACS V | profound hypotonia, CVI, nystagmus, pupils nonreactive | Hx of HA, multifocal discharges | normal at 6 months |
| Individual 7 | 3 years | female | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | MS, refractory | 2 months | profound DD, GMFCS V, CFCS V | profound hypotonia with peripheral spasticity | not available | normal |
| Individual 8 | deceased at 32 months | male | c.1197−8G>A (GenBank: NM_001288739.1) | 10a | MS, FS, refractory | 3 months | profound DD, GMFCS V, CFCS V | dystonic movement disorder, profound hypotonia, CVI | asynchrony, electroclinical myoclonic seizures | diffuse cerebral atrophy |
| Individual 9 | 3 years | female | c.1202G>A (GenBank: NM_001288739.1) (p.Gly401Asp [GenBank: NP_001275668.1]) | 10a | no clinical seizures | 6 months | profound DD, GMFCS V, CFCS V, MiniMACS V | profound hypotonia, CVI, nystagmus | Hx of HA, mild background slowing, focal spikes and polyspikes | abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small CC |
| Individual 10 | deceased at 10 months | male | c.1195A>T (GenBank: NM_004408.3) (p.Arg399Ter [GenBank: NP_004399.2]), c.1195A>T (GenBank: NM_001288739.1) (p.Arg399Trp [GenBank: NP_001275668.1]) | 10a | ES, FS, refractory | 3 months | profound DD, GMFCS V, CFCS V | hyperkinetic dystonic movement disorder, profound hypotonia, CVI | HA | not available |
| Individual 11 | 5 years | female | c.1214C>T (GenBank: NM_004408.3) (p.Pro405Leu [GenBank: NP_004399.2]) | 10b | no seizures | N/A | mild DD, GMFCS I, CFCS I, MACS II | mild hypotonia, behavioral problems | moderate increase in beta frequencies | normal at 5 years |
ES, epileptic spasms; MS, myoclonic seizures; SS, subclinical seizures; GE, generalized epilepsy; FE, focal epilepsy; CE, combined epilepsy; LGS, Lennox-Gastaut syndrome; DD, developmental delay; GMFCS, Gross Motor Function Classification System; CFCS, Communication Function Classification System; CVI, cortical visual impairment; HA, hypsarrhythmia; WM, white matter; SF, seizure free; Hx, history; N/A, not applicable.