|
rs368001837
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 1 (NM_153033.4: c.[533C > T], NP_694578: p.[(Ala178Val)]) was a 17-year-old girl who presented with early-onset epilepsy resembling epilepsia partialis continua (responsive to intravenous corticosteroids and immunoglobulins), and later developed myoclonic seizures and atypical absences, photosensitivity to very low frequencies and progressive seizures-related neurocognitive and motor deterioration.
|
30500434 |
2019 |
|
rs750033880
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patient 2 (NM_153033.4: c.[172G>A], NP_694578: p.[(Gly58Arg)]) presented with early neurological regression, myoclonic seizures and lysosomal storage material which was consistent with a neuronal ceroid lipofuscinosis (NCL) at skin biopsy.
|
30500434 |
2019 |
|
rs769236847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband from the second family was homozygous for c.146G > A (p.R49Q) and manifested myoclonic seizures, developmental delay, coarse hair and diffuse cortical atrophy.
|
30978478 |
2019 |
|
rs150691273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using Next Generation Sequencing for the screening of patients with idiopathic epilepsy, we identified the p.Arg550Cys (c.1648C>T) heterozygous mutation on <i>HCN4</i> in two brothers affected by benign myoclonic epilepsy of infancy.
|
30127718 |
2018 |
|
rs755903502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of SCARB2 genomic and cDNA identified a heterozygous, maternally inherited novel mutation, c.1412A>G (p.Glu471Gly), in the brother with GD and myoclonic epilepsy, absent from his sibling and controls.
|
21796727 |
2011 |
|
rs776095655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy.
|
21865127 |
2011 |
|
rs104894884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.
|
17262856 |
2007 |
|
rs104894885
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively.
|
17262856 |
2007 |
|
rs104894743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 bp in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C>T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press].
|
12376946 |
2002 |