Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

Kessi, Miriam; Peng, Jing; Yang, Lifen; Xiong, Juan; Duan, Haolin; Pang, nan sim; Yin, Fei

doi:10.1186/s12863-018-0628-5

Cited by 45 publications

(50 citation statements)

References 56 publications

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“…We found that there is a significantly higher rate of congenital heart defects in 3q29Del as compared to 3q29Dup (24.8% vs. 6.5%, p = 0.047), which is in line with previously published studies of 3q29Del and 3q29Dup. We also found a higher rate of 3q29Dup participants reporting seizures as compared to 3q29Del participants (25.8% vs. 15.4%, p = 0.276); while this difference is not statistically significant, it lends additional support to the association between 3q29Dup and seizure phenotypes previously described in case reports (Fernández-Jaén et al, 2014;Kessi et al, 2018;Lesca et al, 2012;Tassano et al, 2018). The registry asks only about the presence or absence of seizures; collecting more data about seizure phenotypes associated with the 3q29 duplication is an important future direction for this work.…”

Section: Discussionsupporting

confidence: 81%

“…We also find that seizures, frequently described in case reports of 3q29 duplication syndrome (Fernández-Jaén et al, 2014;Kessi et al, 2018;Lesca et al, 2012;Tassano et al, 2018), are reported in 25% of our study subjects, thus individuals with 3q29 duplication syndrome should be evaluated by a pediatric neurologist. We find feeding problems and chronic constipation are reliably manifest, such that a pediatric gastroenterologist should administer an evaluation.…”

Section: Discussionsupporting

confidence: 79%

“…Seizures: 25.8% (n = 8) of 3q29Dup participants reported seizures, consistent with prior reports of individuals with 3q29Dup (Fernández-Jaén et al, 2014;Kessi et al, 2018;Lesca et al, 2012;Tassano et al, 2018) and significantly elevated relative to the general population (general population prevalence = 1.2%, p < 2.20E-16) (Zack & Kobau, 2017).…”

Section: Seizures and Neuropsychiatric Phenotypessupporting

confidence: 87%

“…However, the phenotype of 3q29Dup is not fully understood. Case reports have found 3q29Dup to be associated with developmental delay, speech delay, ID, ocular and cardiac anomalies, microcephaly, dental anomalies, obesity, and seizures (Aleixandre Blanquer et al, 2011;Ballif et al, 2008;Fernández-Jaén et al, 2014;Goobie et al, 2009;Kessi et al, 2018;Lesca et al, 2012;Lisi et al, 2008;Schilter et al, 2013;Tassano et al, 2018;Vitale et al, 2018). Additionally, some case reports have described behavioral phenotypes associated with 3q29Dup, most notably a disruptive behavioral profile (Quintela et al, 2015) and behavioral similarities to ASD (Lesca et al, 2012), and one case report identifies an individual with spina bifida (Lawrence, Arreola, Cools, Elton, & Wood, 2017).…”

Section: Introductionmentioning

confidence: 99%

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Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry

et al. 2019

Preprint

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3q29 duplication syndrome (3q29Dup) is a rare genomic disorder caused by the reciprocal duplication of the 1.6 Mb 3q29 deletion syndrome region. Case reports indicate the 3q29Dup is likely to be pathogenic, but because no systematic study of the syndrome exists, the full range of manifestations is not well-understood. To develop a better understanding of 3q29 duplication syndrome, we used the 3q29 registry (https://3q29deletion.patientcrossroads.org/) to ascertain 31 individuals with 3q29Dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion syndrome (3q29Del) and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale (SRS) and Achenbach Behavior Checklists (CBCL/ABCL), to assess social disability. We find that our 3q29Dup participants report a high rate of problems in the firstyear of life (80.6%), including feeding problems (58%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (87.1%) and seizures (25.8%) are common. Additionally, we find a rate of self-reported ASD diagnoses (39%) similar to that previously identified in 3q29Del (29%), and the granular characteristics of social disability measured using the SRS and CBCL/ABCL are comparable between 3q29Dup and 3q29Del. This is the most comprehensive description of 3q29Dup to date. Our findings can be used to develop evidence-based strategies for early intervention and management of 3q29 duplication syndrome.

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Section: Discussionsupporting

confidence: 81%

Section: Discussionsupporting

confidence: 79%

Section: Seizures and Neuropsychiatric Phenotypessupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry

et al. 2019

Preprint

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“…Case reports of 3q29dup report a range of associated characteristics, including developmental delay, speech delay, intellectual disability (ID), ocular and cardiac anomalies, microcephaly, dental anomalies, obesity, and seizures (Aleixandre Blanquer et al, ; Ballif et al, ; Fernández‐Jaén et al, ; Goobie et al, ; Kessi et al, ; Lesca et al, ; Lisi et al, ; Schilter et al, ; Tassano et al, ; Vitale et al, ). Additionally, some case reports have described a disruptive behavioral profile (Quintela et al, ) and behavioral similarities to autism spectrum disorder (ASD) (Lesca et al, ), and one case report identifies an individual with spina bifida (Lawrence, Arreola, Cools, Elton, & Wood, ).…”

Section: Introductionmentioning

confidence: 99%

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry

Pollak

Zinsmeister

Murphy

et al. 2020

American J of Med Genetics Pt A

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3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale and Child Behavior Checklist/Adult Behavior Checklist, to assess social disability. Participants with 3q29dup report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an autism susceptibility locus. This is the most comprehensive description of 3q29dup to date. Our findings can be used to develop evidence-based strategies for early intervention and management of 3q29dup. K E Y W O R D S3q29 duplication, autism, epilepsy, genomic disorder, intellectual disability

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Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients

2022

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Kv4.2 subunits, encoded by KCND2, serve as the pore‐forming components of voltage‐gated, inactivating ISA K+ channels expressed in the brain. ISA channels inactivate without opening in response to subthreshold excitatory input, temporarily increasing neuronal excitability, the back propagation of action potentials, and Ca2+ influx into dendrites, thereby regulating mechanisms of spike timing‐dependent synaptic plasticity. As previously described, a de novo variant in Kv4.2, p.Val404Met, is associated with an infant‐onset developmental and epileptic encephalopathy in monozygotic twin boys. The p.Val404Met variant enhances inactivation directly from closed states, but dramatically impairs inactivation after channel opening. We now report the identification of a closely related, novel, de novo variant in Kv4.2, p.Val402Leu, in a boy with an early‐onset pharmacoresistant epilepsy that evolved to an epileptic aphasia syndrome (Continuous Spike Wave during Sleep Syndrome). Like p.Val404Met, the p.Val402Leu variant increases the rate of inactivation from closed states, but significantly slows inactivation after the pore opens. Although quantitatively the p.Val402Leu mutation alters channel kinetics less dramatically than p.Val404Met, our results strongly support the conclusion that p.Val402Leu and p.Val404Met cause the clinical features seen in the affected individuals and underscore the importance of closed state inactivation in ISA channels in normal brain development and function.

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review

Cited by 45 publications

References 56 publications

Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry

Systematic Description of 3q29 Duplication Syndrome Reveals New Syndromic Phenotypes: Results from the 3q29 Registry

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry

Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients

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