6533b7d7fe1ef96bd12679d7

RESEARCH PRODUCT

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

Antonina FontanaVincenzo SalpietroRosaria NardelloElisa GiorgioGiuseppe Donato ManganoPasquale StrianoSalvatore ManganoVincenzo AntonaAlfredo Brusco

subject

Pediatricsmedicine.medical_specialtyKBGAdolescentseizureOutcome (game theory)ANKRD11EpilepsySeizuresIntellectual DisabilityMedicineHumansAbnormalities MultipleBone Diseases Developmentalbusiness.industryTooth AbnormalitiesFaciesHigh-Throughput Nucleotide SequencingGeneral MedicineKBG SYNDROMESyndromemedicine.diseaseKBG syndromeRepressor ProteinsPhenotypeNeurologySlowing EEG activityANKRD11; KBG; Seizures; Slowing EEG activity; SyndromeFemaleNeurology (clinical)business

description

KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.

yearjournalcountryeditionlanguage
2021-01-01Seizure
10.1016/j.seizure.2020.12.017https://pubmed.ncbi.nlm.nih.gov/33476899