Evidence map›Paper›PMID 39442533›Full record

ArticleEpilepsia open2024

Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.

Benjamin Edmonds, Jacqueline P Ngo, Aran Groves, Beck Reyes, Rolanda A Gott, Dennis J Chia, Hilda Mirbaha, Shino Magaki, Negar Khanlou, Stacy L Pineles and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsia open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

18 authors.

Benjamin EdmondsDivision of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, USA.ORCID https://orcid.org/0000-0002-8872-6951
Jacqueline P NgoDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Aran GrovesDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Beck ReyesDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Rolanda A GottDivision of Developmental Pediatrics, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Dennis J ChiaDivision of Pediatric Endocrinology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Hilda MirbahaDivision of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.
Shino MagakiDivision of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.ORCID https://orcid.org/0000-0003-0433-5759
Negar KhanlouDivision of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.
Stacy L PinelesDepartment of Ophthalmology, David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.
Noriko SalamonDepartment of Radiological Sciences, University of California Los Angeles, Los Angeles, California, USA.
Rachel M ThompsonDepartment of Orthopedics, University of California Los Angeles, Los Angeles, California, USA.
Maya NewmanDivision of Pediatric Physical Medicine and Rehabilitation, University of California Los Angeles, Los Angeles, California, USA.
Rajsekar R RajaramanDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Shaun A HussainDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.ORCID https://orcid.org/0000-0001-6947-8852
Aria FallahDepartment of Neurosurgery, David Geffen School of Medicine, UCLA Medical Center, Los Angeles, California, USA.ORCID https://orcid.org/0000-0002-9703-0964
Bianca RussellDivision of Clinical Genetics, Department of Human Genetics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.
Hiroki NariaiDivision of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine, UCLA Mattel Children's Hospital, Los Angeles, California, USA.ORCID https://orcid.org/0000-0002-8318-2924

Funding

Refining neurophysiological biomarkers of epilepsy using deep learning to guide pediatric epilepsy surgeryK23NS128318 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Hiroki Nariai · 2023 to 2026
$968k
NIH HHS K23NS128318NINDS NIH HHS K23 NS128318
6 · The paper itself

Abstract

Recent genetic studies have revealed that hemimegalencephaly (HME) is a multi-system disorder associated with germline or mosaic variants within the PI3K-mTOR-GATOR1 signaling pathways. Patients with HME typically develop drug-resistant epilepsy necessitating extensive evaluation, hemispherectomy, and long-term management. We describe the role of a multidisciplinary team (MDT) for the diagnosis and management of recent patients with HME at UCLA who underwent hemispherectomy. Genetic evaluation identified nine patients with the following variants: NPRL3 x2 germline, PIK3CA mosaicism x4, MTOR mosaicism x1, AKT3 mosaicism x1, unknown x1. Each patient's MDT comprised 4-9 specialties. One child with a MTOR variant had persistent epilepsy after hemispherectomy, but addition of everolimus resulted in an 80% decrease in seizure frequency. Another child with hemihypertrophy and PIK3CA mosaic variant was offered targeted PIK3CA inhibitor treatment, alpelisib, for overgrowth. A third child with germline NPRL3 variant inherited from their unaffected mother resulted in a sibling being diagnosed with the variant who later developed seizures secondary to focal cortical dysplasia. The implementation of a MDT offers essential guidance for families affected by HME, encompassing prognostication, surveillance, and therapeutic strategies. Identifying the etiology of HME can facilitate the development of targeted treatments and enable timely genetic counseling. PLAIN LANGUAGE SUMMARY: Hemimegalencephaly (HME) is a complex brain disorder caused by genetic changes. It often leads to severe epilepsy that doesn't respond to standard treatments and frequently requires surgery. In this case series, nine patients with HME were identified and found to have genetic mutations in key growth-regulating genes. A multidisciplinary team model was developed to facilitate patients' care. For example, one patient's seizures improved with surgery, another with a new targeted medication, and another received treatment for symptoms of overgrowth. This team approach provides comprehensive care for patients and can lead to efficient care coordination and implementation of novel therapies.

Indexed as

HemimegalencephalyPatient Care TeamChildChild, PreschoolClass I Phosphatidylinositol 3-KinasesDrug Resistant EpilepsyFemaleHemispherectomyHumansInfantMaleTOR Serine-Threonine KinasesClass I Phosphatidylinositol 3-KinasesMTOR protein, humanPIK3CA protein, humanTOR Serine-Threonine Kinasesepilepsygeneticshemimegalencephaly (HME)MTORmultidisciplinary

Identifiers

PMID39442533
PMCPMC11633684

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Registered trials

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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.