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Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype.

Pediatric neurology - 1 Jun 2024

Babunovska Marija, Cepreganova Cangovska Tatjana, Kuzmanovski Igor, Noveski Predrag, Plaseska-Karanfilska Dijana, Cvetkovska Emilija

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PMID: 38593730
DOI: 10.1016/j.pediatrneurol.2024.03.011

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype.PMID 38593730Read ↗

A splice-site variant in ANKRD11 associated with classical KBG syndrome.Semantic proximity Read ↗

KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review.Semantic proximity Read ↗

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.Semantic proximity Read ↗

Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.Semantic proximity Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.Semantic proximity Read ↗

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinSemantic proximity Read ↗

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Semantic proximity Read ↗

ANKRD11 gene deletion in a 17-year-old male.Semantic proximity Read ↗

[Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].Semantic proximity Read ↗

[Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].Semantic proximity Read ↗

Epilepsy in KBG syndrome.Semantic proximity Read ↗

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