Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication

Jones, Kay S.; Weiss, Shelly K.; Minassian, Berge A.

doi:10.1002/ccr3.591

Cited by 2 publications

(2 citation statements)

References 10 publications

(13 reference statements)

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“…A de novo heterozygous mutation of KIF2A gene has been reported in a child with lissencephaly, developmental delay, and IS [47]. Recently, a child with IS and periventricular nodular heterotopia was found to harbor an unbalanced chromosomal translocation 3p26.2-10p15.1 and a 6q22.31 duplication [48]. A child with a novel homozygous nonsense mutation in the B3GALNT2 gene was reported with clinical features compatible with a diagnosis of Walker-Warburg syndrome, ISs, and sensorineural hearing loss [49].…”

Section: Structural Brain Disordersmentioning

confidence: 99%

West syndrome: a comprehensive review

et al. 2020

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Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.

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Section: Structural Brain Disordersmentioning

confidence: 99%

West syndrome: a comprehensive review

et al. 2020

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“…At the same time, recent technological advances in genetics and genomics have improved the capacity to unveil the complex genetic architecture of GMH and allowed identification of numerous pathogenic variants, mostly sequence changes, associated with a neuroanatomical or neurobehavioral phenotype. A wide range of genetic defects have been reported in GMH, from single nucleotide variants to copy number variations (CNVs) and chromosomal rearrangements (translocations, large deletions, and ring chromosomes) (2,(7)(8)(9)(10)(11). However, the pathogenesis of GMH is multifactorial, the genetic factors interacting with environmental factors in different stages of neurodevelopment (3,5).…”

Section: Introductionmentioning

confidence: 99%

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

et al. 2021

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Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug-resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.

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Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication

Cited by 2 publications

References 10 publications

West syndrome: a comprehensive review

West syndrome: a comprehensive review

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

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