Evidence map›Paper›PMID 36531974›Full record

ArticleNeurology. Genetics2022

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J Steinman, Sarah J Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E Spiro, Wendy K Chung and 2 more

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In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.5field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Neurology. Genetics · 2025
    Article
  6. Review
  7. The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024
    Review
  8. Review
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 1 institution in 1 country.

Christelle Moufawad El AchkarDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.ORCID https://orcid.org/0000-0003-0497-8172
Alyssa RosenDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Sudha Kilaru KesslerDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Kyle J SteinmanDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.ORCID https://orcid.org/0000-0001-6309-5842
Sarah J SpenceDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Melissa RamockiDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Elysa Jill MarcoDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
LeeAnne Green SnyderDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
John E SpiroDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Wendy K ChungDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Poduri AnnapurnaDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Elliott H SherrDepartment of Neurology (C.M.E.A., S.J.S., P.A.), Boston Children's Hospital, Harvard Medical School, MA; Departments of Neurology and Pediatrics (A.R., S.K.K.S.C.E.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Neurology (K.J.S.), Seattle Children's Hospital, University of Washington, Seattle; Center for Vestibular and Balance Disorders (M.R.), University Otolaryngology Inc., East Greenwich; Children's Neurodevelopmental Center (M.R.), Hasbro Children's Hospital, Brown University, Providence, RI; Department of Neurodevelopmental Medicine (E.J.M.), Cortica Healthcare, San Rafael; Department of Radiology (E.J.M.), University of California San Francisco; Simons Foundation (L.G.S., J.E.S.); Department of Pediatrics (W.K.C.), Columbia University Irving Medical Center, New York; Department of Neurology (E.H.S.), University of California, San Francisco; and Weil Institute of Human Genetics and Neurosciences (E.H.S.), University of California, San Francisco.
Boston Children's Hospital · US

Funding

The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2M
NICHD NIH HHS P50 HD105354
6 · The paper itself

Abstract

Background and Objectives: Deletions and duplications at 16p11.2 (BP4 to BP5; 29.5-30.1 Mb) have been associated with several neurodevelopmental and neuropsychiatric disorders including autism spectrum disorder, intellectual disability (ID), and schizophrenia. Seizures have also been reported in individuals with these particular copy number variants, but the epilepsy phenotypes have not been well-delineated. We aimed to systematically characterize the seizure types, epilepsy syndromes, and epilepsy severity in a large cohort of individuals with these 16p11.2 deletions and duplications. Methods: The cohort of ascertained participants with the recurrent 16p11.2 copy number variant was assembled through the multicenter Simons Variation in Individuals Project. Detailed data on individuals identified as having a history of seizures were obtained using a semistructured phone interview and review of medical records, EEG, and MRI studies obtained clinically or as part of the Simons Variation in Individuals Project. Results: Among 129 individuals with the 16p11.2 deletion, 31 (24%) had at least one seizure, including 23 (18%) who met criteria for epilepsy; 42% of them fit the phenotype of classic or atypical Self-limited (Familial) Infantile Epilepsy (Se(F)IE). Among 106 individuals with 16p11.2 duplications, 16 (15%) had at least one seizure, including 11 (10%) who met criteria for epilepsy. The seizure types and epilepsy syndromes were heterogeneous in this group. Most of the individuals in both the deletion and duplication groups had well-controlled seizures with subsequent remission. Pharmacoresistant epilepsy was uncommon. Seizures responded favorably to phenobarbital, carbamazepine, and oxcarbazepine in the deletion group, specifically in the Se(F)IE, and to various antiseizure medications in the duplication group. Discussion: These findings delineate the spectrum of seizures and epilepsies in the recurrent 16p11.2 deletions and duplications and provide potential diagnostic, therapeutic, and prognostic information.

Identifiers

PMID36531974
PMCPMC9756306
OpenAlexW4292293003

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LicenceCC BY-NC-ND
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.