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Mashup Score: 2Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome - 8 month(s) ago
Objective To describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype-phenotype correlation. Methods We collected data of pati…
Source: onlinelibrary.wiley.comCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 0KBG BEOND Study - 1 year(s) ago
KBG Foundation and BEOND study
Source: KBG FoundationCategories: Latest Headlines, Rare DiseaseTweet-
.@KBGFdn and @CerebraNetwork are pleased to announce the BEOND Study is now open! Parents and caregivers of any #KBGsyndrome affected children aged 1-16 years or adults are encouraged to take part in this expansive behavior study. #BEONDKBG Learn more: https://t.co/dabod8SUHm
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Mashup Score: 1Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein - 2 year(s) ago
Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
KBG syndrome: Not just haploinsufficiency. ANKRD11 missense variants also cause the syndrome, the mechanism described herein #ANKRD11 #GenotypePhenotype #KBGSyndrome https://t.co/jdsps59tn5 https://t.co/dVLjqgUhSF
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"Clinicians should consider KBG syndrome as a causal etiology of epilepsy and be aware of the poorer neurodevelopmental outcome in individuals with #epilepsy." @EpilepsiaOpen: https://t.co/ZBHOVaVC3H #epilepsyresearch #kbgsyndrome https://t.co/tbTGIUZFLU