Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review

Yang, Shan; Yang, Liming; Liao, Hongmei; Fang, Hongjun; Ning, Zeshu; Liao, Caishi; Wu, Liwen

doi:10.1007/s10072-022-06038-3

Cited by 2 publications

(4 citation statements)

References 31 publications

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“…From the literature search, the study yielded 32 patients with a confirmed pathogenic mutation in the SZT2 gene [ 3 , 8 , 9 , 10 , 17 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. We reviewed the demographic, clinical, genetical, neuroimaging, and electrophysiological characteristics of each patient.…”

Section: Resultsmentioning

confidence: 99%

“…The study showed a slight female predominance with 16 female patients compared to 13 male patients. Three patients were unknown [ 25 ]. The most frequently reported countries included the United States (U.S.) and China, with each reporting six patients.…”

Section: Resultsmentioning

confidence: 99%

“…A thorough review of the available literature was conducted among patients reported with SZT2 mutations. We searched publications from the first published article in 2009 to May 2023 [ 3 , 8 , 9 , 10 , 17 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. The terms ( SZT2 mutation) and (mTORC2 pathway) were applied and articles were filtered accordingly.…”

Section: Methodsmentioning

confidence: 99%

“… Linear chart for differences between current age and age of epilepsy onset [ 3 , 8 , 9 , 10 , 17 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. …”

Section: Figurementioning

confidence: 99%

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Insight into Genetic Mutations of SZT2: Is It a Syndrome?

Muthaffar,

Jan,

Alyazidi

et al. 2023

Biomedicines

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Background: The seizure threshold 2 (SZT2) gene encodes a protein of unknown function, which is widely expressed, confers a low seizure threshold, and enhances epileptogenesis. It also comprises the KICSTOR protein complex, which inhibits the mTORC1 pathway. A pathogenic variant in the SZT2 gene could result in hyperactive mTORC1 signaling, which can lead to several neurological disorders. Aim of the study: To review every reported case and present two novel cases to expand the current knowledge and understanding of the mutation. Methods: Whole exome sequencing (WES) was used to identify the novel cases and present their clinical and radiological findings. A detailed revision of the literature was conducted to illustrate and compare findings. The clinical, genetical, neuroimaging, and electrophysiological data were extracted. Results: The study included 16 female patients and 13 male patients in addition to the 2 novel male cases. Eighteen patients had heterozygous mutations; others were homozygous. The majority presented with facial dysmorphism (n = 22). Seizures were noted as the predominant hallmark (n = 26). Developmental delay and hypotonia were reported in 27 and 15 patients, respectively. The majority of patients had multifocal epileptiform discharges on the electroencephalogram (EEG) and short and thick corpus callosum on the magnetic resonance imaging (MRI). Conclusion: Several promising features are becoming strongly linked to patients with SZT2 mutations. High variability among the cases was observed. Developmental delay and facial dysmorphism can be investigated as potential hallmarks; aiding clinicians in diagnosing the condition and optimizing management plans.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“… Linear chart for differences between current age and age of epilepsy onset [ 3 , 8 , 9 , 10 , 17 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 ]. …”

Section: Figurementioning

confidence: 99%

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