Artikel ; Online: Epilepsy in KBG Syndrome: Report of Additional Cases.
2023 Band 151, Seite(n) 138–142
Abstract: Background: KBG syndrome is a genetic disorder characterized by short stature, dysmorphic features, macrodontia, cognitive impairment, and limb anomalies. Epilepsy is an important comorbidity associated with KBG syndrome, although the entire phenotypic ... ...
| Abstract | Background: KBG syndrome is a genetic disorder characterized by short stature, dysmorphic features, macrodontia, cognitive impairment, and limb anomalies. Epilepsy is an important comorbidity associated with KBG syndrome, although the entire phenotypic spectrum may not be fully appreciated. Methods: We identified five new patients with KBG syndrome-related epilepsy and compared their phenotype to previously reported cases in the literature. Results: Five patients with KBG syndrome-related epilepsy were identified. Three patients (60%) were male. Median age of seizure onset was 18 months (interquartile range 5, 32). The epilepsy type was generalized in three patients (60%); in two, the epilepsy type was combined (40%), with focal and generalized seizures. In one patient (20%), the epilepsy syndrome was classifiable and the child was diagnosed with myoclonic-atonic epilepsy. All five patients had pathogenic variants in the ANKRD11 gene. Epilepsy was refractory in two patients (40%). No specific antiseizure medication (ASM) was found to be superior. Literature review yielded 134 cases, median age of seizure onset was 4 years, and seizures were generalized (n = 60, 44%), focal (n = 26, 19%), or combined (n = 13, 10%). An epilepsy syndrome was diagnosed in 12 patients (8.8%). In those with documented response to ASM (n = 49), 22.4% were refractory (n = 11). Conclusions: Our study confirms that few patients with epilepsy and KBG syndrome have an identifiable epilepsy syndrome and generalized seizures are most common. We highlight that epilepsy associated with KBG syndrome may occur before age one year and should be an important diagnostic consideration in this age group. |
|||||
|---|---|---|---|---|---|---|
| Mesh-Begriff(e) | Child ; Humans ; Male ; Infant ; Child, Preschool ; Female ; Abnormalities, Multiple/diagnosis ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Bone Diseases, Developmental/diagnosis ; Tooth Abnormalities/diagnosis ; Tooth Abnormalities/genetics ; Facies ; Repressor Proteins/genetics ; Epilepsy/complications ; Epilepsy/drug therapy ; Seizures/genetics ; Epilepsies, Myoclonic ; Phenotype | |||||
| Chemische Substanzen | Repressor Proteins | |||||
| Sprache | Englisch | |||||
| Erscheinungsdatum | 2023-12-14 | |||||
| Erscheinungsland | United States | |||||
| Dokumenttyp | Journal Article | |||||
| ZDB-ID | 639164-3 | |||||
| ISSN | 1873-5150 ; 0887-8994 | |||||
| ISSN (online) | 1873-5150 | |||||
| ISSN | 0887-8994 | |||||
| DOI | 10.1016/j.pediatrneurol.2023.12.006 | |||||
| Signatur |
|
|||||
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Volltext online
Zusatzmaterialien
Kategorien
Verfügbar in ZB MED Köln/Königswinter
| Zs.A 2260: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG) |
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.