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Related Experiment Video

Updated: Nov 26, 2025

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study.

Manami Akasaka¹, Atsushi Kamei¹, Jun Ito¹

¹Pediatrics, Iwate Medical University, Morioka, JPN.

|December 11, 2020

Summary

This summary is machine-generated.

This case study details a rare instance of Turner syndrome (TS) with intractable epilepsy and global developmental delay. Treatment with a combination of antiepileptic drugs partially controlled seizures, suggesting a link between Xq21.1 deletion and neurological issues.

Keywords:

fluorescence in situ hybridization g-band analysis intellectual disability lamotrigine and valproic acid combination therapy mosaicism neurodevelopmental disorder refractory seizure spikes shifting foci turner syndrome unclassified epilepsy

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Published on: April 7, 2023

Area of Science:

Genetics
Neurology
Endocrinology

Background:

Turner syndrome (TS) is a common chromosomal abnormality in females, characterized by short stature, gonadal dysgenesis, and webbing of the neck.
While typically not associated with intellectual disability, rare cases of TS have been linked to epilepsy.

Observation:

A patient with TS presented with global developmental delay at age two, later developing intractable generalized tonic and focal-onset seizures.
Karyotyping initially revealed mosaicism (45, X/46, X del (X) (q21.1)), with later examinations showing 45, X, possibly indicating loss of mosaic pattern.
Electroencephalography (EEG) showed multifocal spikes and shifting ictal foci, consistent with refractory epilepsy.

Findings:

The patient's epilepsy was refractory to multiple antiepileptic drugs.
Combination therapy with lamotrigine and valproic acid reduced seizure frequency by approximately 50%.

Implications:

The mosaic deletion at Xq21.1 is hypothesized to be the cause of epilepsy and intellectual disability in this TS case.
Further research on similar cases is needed to develop effective therapeutic strategies for TS-associated neurological complications.