Imaging the Patient with Epilepsy

Hsu, Charlie; Stenberg, Lars; Krings, Timo

doi:10.1007/978-3-030-38490-6_10

Cited by 2 publications

(1 citation statement)

References 17 publications

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“…Twenty-five percent of children with refractory epilepsy will have a cortical development disorder, making NMDs a critical differential which should be considered in these patients. Family history of ID or developmental disorders in the child should also elicit clinical suspicion (Hsu et al, 2020). PNH is the exception, as these patients may only develop seizures in later life, though cognitive difficulties can emerge in childhood too, albeit less commonly (Felker et al, 2011).…”

Section: Conclusion and Future Prospectsmentioning

confidence: 99%

X‐linked neuronal migration disorders: Gender differences and insights for genetic screening

Edey,

Soleimani‐Nouri,

Dawson‐Kavanagh

et al. 2023

Intl J of Devlp Neuroscience

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Cortical development depends on neuronal migration of both excitatory and inhibitory interneurons. Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive impairment, developmental delay and seizures. Refractory epilepsy affects 15 million people worldwide, and it is thought that cortical developmental disorders are responsible for 25% of childhood cases. However, little is known about the epidemiology of these disorders, nor are their aetiologies fully understood, though many are associated with sporadic genetic mutations.In this review, we aim to highlight X‐linked NMDs including lissencephaly, periventricular nodular heterotopia and polymicrogyria because of their mostly familial inheritance pattern. We focus on the most prominent genes responsible: including DCX, ARX, FLNA, FMR1, L1CAM, SRPX2, DDX3X, NSHDL, CUL4B and OFD1, outlining what is known about their prevalence among NMDs, and the underlying pathophysiology. X‐linked disorders are important to recognise clinically, as females often have milder phenotypes. Consequently, there is a greater chance they survive to reproductive age and risk passing the mutations down. Effective genetic screening is important to prevent and treat these conditions, and for this, we need to know gene mutations and have a clear understanding of the function of the genes involved. This review summarises the knowledge base and provides clear direction for future work by both scientists and clinicians alike.

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Section: Conclusion and Future Prospectsmentioning

confidence: 99%