Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

Jhang, Kai-Ming; Chang, Ting-Wei; Chen, Ming; Liu, Chin‐San

doi:10.1186/1752-1947-8-109

Cited by 11 publications

(12 citation statements)

References 24 publications

(38 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An English literature survey from 1990 until 2020 was done using the keywords "Turner syndrome" and "epilepsy" in the PubMed database and Japan Medical Abstracts Society, and only nine case reports have appeared ( Table 1) [5][6][7][8][9][10][11][12][13]. In six of these cases, the karyotype analysis showed mosaicism, although the mosaic karyotyping 45, X/46, X del (X) (q21.1) had never reported in the present case.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

Akasaka

Kamei

Ito

et al. 2020

Cureus

View full text Add to dashboard Cite

Turner syndrome (TS) is the most frequent sex abnormality in women. The physical features include short stature, webbing of the neck, and gonadal dysgenesis. Typically, patients with Turner syndrome exhibit no intellectual disability, and a few cases of TS have been associated with epilepsy. Herein, we present a case of TS with intractable epilepsy. The patient presented with global developmental delay at the age of two and karyotyping revealed mosaicism [45, X/46, X del (X) (q21.1)]. At the age of seven, she had generalized tonic epilepsy as well as several focal-onset seizures. She developed daily seizures, which were refractory to several antiepileptic drugs. Interictal electroencephalography (EEG) revealed multifocal spikes, and ictal EEG revealed shifting foci. She visited our hospital at the age of 13. Her peripheral white blood cells G-band and fluorescence in situ hybridization (FISH) method chromosome with cheek swab examinations revealed 45, X. Her peripheral white blood cell mosaic pattern may have disappeared over time or become indetectable. We treated her with clobazam, and then lamotrigine and valproic acid combination therapy, which resulted in a reduction in the frequency of seizures by approximately 50%. Epilepsy and intellectual disability in this case may be due to the mosaic deletion at Xq21.1. Further analysis of similar cases may provide valuable information for effective therapeutic strategies.

show abstract

Section: Discussionmentioning

confidence: 99%

“…However, epilepsy is unusual in TS, with a morbidity rate of approximately 2-3% [3,4]. TS with epilepsy is frequently associated with structural brain abnormalities and mosaicism karyotype [5][6][7][8][9][10][11][12][13]. As there are few reports on TS with epilepsy, the relationship between epilepsy and the X-chromosome in TS is unclear.…”

Section: Introductionmentioning

confidence: 99%

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

Akasaka

Kamei

Ito

et al. 2020

Cureus

View full text Add to dashboard Cite

show abstract

“…[ 7 ] The different MRI abnormalities in patients with epilepsy include bilateral perisylvian hypoplasia,[ 8 ] bilateral frontal polymicrogyria,[ 9 ] bizarre cortical dysgenesis of the cerebrum – a mixture of relatively normal gyri and structures resembling pachygyria and lissencephaly,[ 10 ] diffuse periventricular and subcortical white matter FLAIR hyperintensities. [ 11 ] Based on these findings, possible dysgenetic role of X-chromosome was attributed in cortical morphogenesis.…”

Section: Discussionmentioning

confidence: 99%

Chiari I Malformation Associated with Turner Syndrome

Harsha¹,

Nair²

2017

Journal of Neurosciences in Rural Practice

View full text Add to dashboard Cite

Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

show abstract

“…Most individuals with TS have short stature, which is associated with the loss of the SHOX gene [110][111][112] . These individuals are at increased risk for neurodevelopmental issues, including learning disabilities, visuo-spatial, social and executive function impairments 113 and epilepsy [114][115][116][117][118] . Interestingly, the smallest chromosomal deletion associated with the neurocognitive phenotype included SHOX 119 , suggesting that loss of SHOX may play a role in cognitive impairments in humans.…”

Section: Discussionmentioning

confidence: 99%

The transcription factor Shox2 shapes thalamocortical neuron firing and synaptic properties

Maroteaux

Song

et al. 2019

Preprint

View full text Add to dashboard Cite

Thalamocortical neurons (TCNs) transmit information about sensory stimuli from the thalamus to the cortex. In response to different physiological states and demands TCNs can fire in tonic and/or phasic burst modes. These firing properties of TCNs are supported by precisely timed inhibitory synaptic inputs from the thalamic reticular nucleus and intrinsic currents, including T-type Ca 2+ and HCN currents. These intrinsic currents are mediated by Cav3.1 and HCN channel subunits, and alterations in expression or modulation of these channels can have dramatic implications on thalamus function. The factors that regulate these currents controlling the firing patterns important for integration of the sensory stimuli and the consequences resulting from the disruption of these firing patterns are not well understood. Shox2 is a transcription factor known to be important for pacemaker activity in the heart. We show here that Shox2 is also expressed in adult mouse thalamus. We hypothesized that genes regulated by Shox2's transcriptional activity may be important for physiological properties of TCNs. In this study, we used RNA sequencing on control and Shox2 knockout mice to determine Shox2-affected genes and revealed a network of ion channel genes important for neuronal firing properties. Quantitative PCR confirmed that expression of Hcn2, 4 and Cav3.1 genes were affected by Shox2 KO. Western blotting showed expression of the proteins for these channels was decreased in the thalamus, and electrophysiological recordings showed that Shox2 KO impacted the firing and synaptic properties of TCNs. Finally, behavioral studies revealed that Shox2 expression in TCNs play a role in somatosensory function and object recognition memory. Overall, these results reveal Shox2 as a transcription factor important for TCN firing properties and thalamic function. 1 Processing of sensory information is mediated by precise circuitry that senses stimuli in 2 the periphery and transforms the information through a network of synaptic connections to 3 ultimately allow perception and cognitive processing of the surrounding world. Rhythmic 4 oscillations of brain activity crucial to cognitive function emerge from neuronal network 5 interactions that consist of reciprocal connections between the thalamus, the inhibitory 6 thalamic reticular nucleus and the cortex 1 . Dysfunction of these oscillations caused by 7 aberrant activity in the thalamic circuit is thought to play a role in many neuropathological 8 conditions, including epilepsy 2-4 , autism 5-7 , and schizophrenia [8][9][10][11] . Furthermore, damage to 9 thalamic nuclei, especially medial and anterior nuclei, causes severe memory deficits known 10 as diencephalic amnesia 12-17 . 11 The intrinsic properties that shape action potential firing and contribute to rhythmic 12 oscillations of the thalamocortical neurons (TCNs) are important for efficient transfer of 13 information from the thalamus to the cortex. Notably, TCNs switch their firing states between 14 2 modes, burst and tonic fi...

show abstract

Generalized epilepsy in a patient with mosaic Turner syndrome: a case report

Cited by 11 publications

References 24 publications

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

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

Chiari I Malformation Associated with Turner Syndrome

The transcription factor Shox2 shapes thalamocortical neuron firing and synaptic properties

Contact Info

Product

Resources

About