A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Sarıgeçili, Esra; Bulut, Fatma Derya; Anlaş, Özlem

doi:10.1016/j.clineuro.2022.107283

Cited by 8 publications

(4 citation statements)

References 10 publications

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“…Twelve of 23 presented with seizures, 10 of 12 were diagnosed as having epilepsy. 1,[7][8][9][10][11][12] Eleven of 23 presented without seizures. 1,7,13,14 Fig.…”

Section: Discussionmentioning

confidence: 99%

“…Twelve of 23 presented with seizures, 10 of 12 were diagnosed as having epilepsy. 1 7 8 9 10 11 12 Eleven of 23 presented without seizures. 1 7 13 14 Of the patients without seizures, six patients were from Damseh et al's report, 1 and two siblings were reported by Srour et al 13 Also one patient, reported by Heimer et al, 14 who was carrying a homozygous missense p.E256K variant, had repeated febrile seizures; however, epilepsy was not reported.…”

Section: Discussionmentioning

confidence: 99%

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Report of a New Pediatric Patient with the SLC1A4 Variant and a Brief Review of the Literature

Yalçın,

Cinleti,

Yeşilyurt

et al. 2024

Journal of Pediatric Neurology

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Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive disorder characterized by the onset of those features and severely impaired global development in early infancy, and caused by biallelic deleterious SLC1A4 variants. SLC1A4 encodes for the neutral amino acid transporter, ASCT1, which is necessary for L-serine and D-serine cellular transport to neurons. The objective of this study was to contribute to the genotype–phenotype correlation of SLC1A4 variants. We evaluated a Turkish patient presenting with SPATCCM without seizures and reviewed all previously reported cases of the SLC1A4 mutation. Whole exome sequencing revealed a missense biallelic p.R457W variant in SLC1A4 in a child of Palestinian origin. We suggest that the SLC1A4 should be considered in the diagnosis of unexplained severe early-onset neurodevelopmental impairment, progressive microcephaly, and spastic tetraparesis with or without epilepsy, regardless of ethnicity and encourage the analysis of SLC1A4 variants via molecular genetic testing. The presence or absence of epilepsy should not distract from the diagnosis.

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“…Twelve of 23 presented with seizures, 10 of 12 were diagnosed as having epilepsy. 1,[7][8][9][10][11][12] Eleven of 23 presented without seizures. 1,7,13,14 Fig.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Report of a New Pediatric Patient with the SLC1A4 Variant and a Brief Review of the Literature

Yalçın,

Cinleti,

Yeşilyurt

et al. 2024

Journal of Pediatric Neurology

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“…Serine synthesis is confined to glia within the brain and is shuttled to neurons via SLC1A4, a dedicated neutral amino acid transporter. Disruptions in this process lead to SPATCCM syndrome, which is characterized by seizures, microcephaly, spasticity, intellectual disability, developmental delay, and a thin corpus callosum with delayed myelination and cortical atrophy 1 . Eight distinct variants within SLC1A4 (Y191*, E256K, G374R, G381R, R457W, R457Q, L315Hfs*42, and W453*) 1–8 have been associated with SPATCCM syndrome in the recessive state.…”

Section: Introductionmentioning

confidence: 99%

“…Disruptions in this process lead to SPATCCM syndrome, which is characterized by seizures, microcephaly, spasticity, intellectual disability, developmental delay, and a thin corpus callosum with delayed myelination and cortical atrophy. 1 Eight distinct variants within SLC1A4 (Y191*, E256K, G374R, G381R, R457W, R457Q, L315Hfs*42, and W453*) 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 have been associated with SPATCCM syndrome in the recessive state. Notably, SLC1A4 haploinsufficiency does not appear to result in disease, as individuals heterozygous for the pathogenic Y191*, and L315Hfs*42 variants are unaffected.…”

Section: Introductionmentioning

confidence: 99%

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Pujol‐Giménez

Mirzaa

Blue

et al. 2023

Ann Clin Transl Neurol

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SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup). We demonstrate that L86_M88dup causes a dominant-negative N-glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L-serine.

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Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)

Ratz-Mitchem,

Leary,

Grindeland

et al. 2023

Mamm Genome

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A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Cited by 8 publications

References 10 publications

Report of a New Pediatric Patient with the SLC1A4 Variant and a Brief Review of the Literature

Report of a New Pediatric Patient with the SLC1A4 Variant and a Brief Review of the Literature

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)

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