Neurogenesis, neuronal migration, and axon guidance

Accogli, Andrea; Addour-Boudrahem, Nassima; Srour, Myriam

doi:10.1016/b978-0-444-64150-2.00004-6

Cited by 32 publications

(21 citation statements)

References 205 publications

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“…However, STXBP1 may have a role in neuronal maturation and migration, especially radial migration. 26 , 27 Therefore, a genetic diagnosis should not exclude epilepsy surgery evaluation in individuals with predominant focal electroclinical features. Fundamental research should address the hypothesis of the role of STXBP1 in corticogenesis as a mechanism of neurodevelopmental disorder.…”

Section: Discussionmentioning

confidence: 99%

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Balagura

Xian²,

Riva³

et al. 2022

Neurol Genet

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Background and ObjectivesClinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. We aim to trace the neurodevelopmental trajectories in individuals with STXBP1-DEE and dissect the relationship between neurodevelopment and epilepsy.MethodsRetrospective standardized clinical data were collected through international collaboration. A composite neurodevelopmental score system compared the developmental trajectories in STXBP1-DEE.ResultsForty-eight patients with de novo STXBP1 variants and a history of epilepsy were included (age range at the time of the study: 10 months to 35 years, mean 8.5 years). At the time of inclusion, 65% of individuals (31/48) had active epilepsy, whereas 35% (17/48) were seizure free, and 76% of those (13/17) achieved remission within the first year of life. Twenty-two individuals (46%) showed signs of developmental impairment and/or neurologic abnormalities before epilepsy onset. Age at seizure onset correlated with severity of developmental outcome and the developmental milestones achieved, with a later seizure onset associated with better developmental outcome. In contrast, age at seizure remission and epilepsy duration did not affect neurodevelopmental outcomes. Overall, we did not observe a clear genotype-phenotype correlation, but monozygotic twins with de novo STXBP1 variant showed similar phenotype and parallel disease course.DiscussionThe disease course in STXBP1-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at seizure onset is the only epilepsy-related feature associated with neurodevelopment outcome. These findings can inform future dedicated natural history studies and trial design.

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Section: Discussionmentioning

confidence: 99%

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Balagura

Xian²,

Riva³

et al. 2022

Neurol Genet

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“…We broadened neuronal migration to include axon guidance and growth cone formation because many axon guidance molecules are pleiotropic, with diverse functions in multiple tissues and in the brain, including neuronal migration in the developing brain [ 82 , 83 ] and growth cones are at the tips of the leading processes of migrating neurons and elongating axons [ 82 , 83 ]. Genes in all three pathways have been implicated in disorders of neuronal migration, including periventricular nodular heterotopia [ 84 ], a neuronal migration disorder in which cortical development is compromised, leading to epilepsy and RD [ 85 ].…”

Section: Methodsmentioning

confidence: 99%

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

et al. 2022

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Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10–2, threshold = 2.5 × 10–2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10–2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10–4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.

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“…Brain development and maturation occur in a specific sequence: neurulation, cellular proliferation and differentiation, neuronal migration, axonal guidance and pathfinding, organization, and myelination. 16 Brain plasticity, or neuroplasticity, is the ability to change and adapt because of intrinsic factors, learning experiences, brain lesions, or an insult. The responsible processes include gene expression, epigenetic modification, molecular signaling, synaptic proliferation and pruning, network assembly, reorganization, or remodeling.…”

Section: Underutilization Of Epilepsy Surgerymentioning

confidence: 99%

An Introduction to Minimally Invasive Pediatric Epilepsy Surgery

Riviello

Curry

Weiner

2022

Journal of Pediatric Epilepsy

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The field of minimally invasive surgery has evolved over the past 50 years, including neurosurgery, with an evolution to “minimally invasive neurosurgery” when feasible. Epilepsy surgery has followed this trend, with a transition from standard neurosurgical techniques to minimally invasive techniques in all phases of neurosurgical involvement. These include the diagnostic intracranial electroencephalogram with a subdural exploration to stereoelectroencephalography, the actual resection from an open craniotomy to a less destructive technique, or the multiple modalities of neuromodulation instead of a destructive surgery.The influence of these minimally invasive techniques has resulted in a change in the overall philosophy of pediatric epilepsy surgery. The expectations of what is considered “successful” epilepsy surgery has changed from total seizure control, in other words, a “cure,” to palliative epilepsy surgery with a decrease in the targeted seizures, especially “disabling seizures.” This has led to an overall greater acceptance of epilepsy surgery. This article summarizes the major reasons behind the explosion of minimally invasive pediatric epilepsy surgery, which are amplified in the subsequent articles. Some of this chapter includes the authors' opinions.

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Neurogenesis, neuronal migration, and axon guidance

Cited by 32 publications

References 205 publications

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

An Introduction to Minimally Invasive Pediatric Epilepsy Surgery

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