A patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman syndrome is described, finding EEG and knowledge of unique biomarkers may be a tool that can further refine genetic diagnosis.
Abstract
The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman syndrome. The patient was found to have a maternally inherited, likely pathogenic 258 kb deletion at 15q11.2. Novel electroclinical features associated with this finding included myoclonic absence seizures and other EEG findings consistent with the syndrome of Epilepsy with Myoclonic absences. The 15q11.2 microdeletion syndrome has a broad phenotype, and accuracy of diagnosis appears variable and inconsistent. EEG and knowledge of unique biomarkers may be a tool that can further refine genetic diagnosis.
This case expands the clinical spectrum associated with RFX3 variants, supporting a potential role in IESS and early neurodevelopmental disruption, and highlights the relevance of including RFX3 in the genetic evaluation of patients with IESS and co-occurring neurodevelopmental disorders.
Graziana Ceraolo, Giulia Spoto, M. Trivisano et al.· International Journal of Mol...· 0 citations
A 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years is reported, highlighting the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.
M. J. Löw, Felix Bernsdorff, Christiane Weinrich et al.· Tremor and Other Hyperkineti...· 0 citations
The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.
Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al.· Journal of Neurology· 0 citations
The case of a child with genetically confirmed tetrasomy 18p and nonspecific neuro-imaging findings that may mimic acquired white matter injury or imaging patterns associated with cerebral palsy are reported.
H. Choi, Ga Eun Kim, Sunggyun Park et al.· Annals of Child Neurology· 0 citations
Background Pathogenic variants in TAF1 have previously been associated with X‐linked intellectual disability and X‐linked dystonia‐parkinsonism. Epilepsy is observed in approximately 24.4% of affected individuals, ranging from focal seizures to generalized seizures including either tonic‐clonic, tonic, myoclonic, atoni...
Hui Xiao, Chang-Ning Xie, P. Peng et al.· Human Mutation· 0 citations
This case underscores the importance of considering genetic syndromes in patients with diabetes presenting with early-onset severe obesity and developmental abnormalities and emphasizes the potential therapeutic value of novel antidiabetic agents such as tirzepatide for managing PWS-associated metabolic disturbances.
