PMC6043589_01
Pedigree tree and genetic analysis of Lafora disease family.. a Pedigree tree of the LD family; III-4 (black arrow) is the proband. Her younger sister (III-5) also showed similar symptoms when she was 11 years old. Filled symbols represent individuals with LD. Genotypes of the NHLRC1 variants are shown below each tested individual. Plus sign (+) indicates wild type. b Electropherograms of the proband (III-4), her younger sister (III-5), and their parents (II-3, 4). The proband and her younger sister had a homozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant. Their parents had a heterozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant
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PMC6043589_02_41439_2018_15_Fig1_HTML.jpg
Fig1
The results showed that both patients had a homozygous frameshift variant in the NHLRC1 gene (Fig. 1b), NM_198586.2 (NHLRC1):c.898del p. [Ser300Valfs*13], resulting in the substitution of the
Electroencephalography and magnetic resonance imaging of the proband (III-4).. a Continuous occipital slow waves were observed when she was 12 years old; b generalized spikes and slow waves, and c marked photosensitivity were observed when she was 14 years old. Brain magnetic resonance imaging (fluid attenuated inversion recovery) of the proband (III-4): d cerebral atrophy was prominent when she was 14 years old; e cerebellar atrophy appeared progressively when she was 17 years old
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PMC6043589_01_41439_2018_15_Fig2_HTML.jpg
Fig2
Brain MRI showed progression of cerebellar atrophy when she was 17 years old (Fig. 2e). The younger sister of the proband (Fig. 1a; III-5) experienced a similar GTC following visual hallucinations and myoclonus since the age of 11 years.
PMC6043589_02
Pedigree tree and genetic analysis of Lafora disease family.. a Pedigree tree of the LD family; III-4 (black arrow) is the proband. Her younger sister (III-5) also showed similar symptoms when she was 11 years old. Filled symbols represent individuals with LD. Genotypes of the NHLRC1 variants are shown below each tested individual. Plus sign (+) indicates wild type. b Electropherograms of the proband (III-4), her younger sister (III-5), and their parents (II-3, 4). The proband and her younger sister had a homozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant. Their parents had a heterozygous NM_198586.2 (NHLRC1):c.898del: p. [Ser300Valfs*13] variant
41439_2018_15_Fig1_HTML.jpg
PMC6043589_02_41439_2018_15_Fig1_HTML.jpg
Fig1
The results showed that both patients had a homozygous frameshift variant in the NHLRC1 gene (Fig. 1b), NM_198586.2 (NHLRC1):c.898del p. [Ser300Valfs*13], resulting in the substitution of the