{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:31:47Z","timestamp":1790195507816,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23NS128318"],"award-info":[{"award-number":["K23NS128318"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Recent genetic studies have revealed that hemimegalencephaly (HME) is a multi\u2010system disorder associated with germline or mosaic variants within the <jats:italic>PI3K\u2010mTOR\u2010GATOR1<\/jats:italic> signaling pathways. Patients with HME typically develop drug\u2010resistant epilepsy necessitating extensive evaluation, hemispherectomy, and long\u2010term 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: <jats:italic>NPRL3<\/jats:italic> x2 germline, <jats:italic>PIK3CA<\/jats:italic> mosaicism x4, <jats:italic>MTOR<\/jats:italic> mosaicism x1, <jats:italic>AKT3<\/jats:italic> mosaicism x1, unknown x1. Each patient's MDT comprised 4\u20139 specialties. One child with a <jats:italic>MTOR<\/jats:italic> variant had persistent epilepsy after hemispherectomy, but addition of everolimus resulted in an 80% decrease in seizure frequency. Another child with hemihypertrophy and <jats:italic>PIK3CA<\/jats:italic> mosaic variant was offered targeted <jats:italic>PIK3CA<\/jats:italic> inhibitor treatment, alpelisib, for overgrowth. A third child with germline <jats:italic>NPRL3<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>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\u2010regulating 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.13079","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T22:44:45Z","timestamp":1729723485000},"page":"2510-2517","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Multi\u2010disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8872-6951","authenticated-orcid":false,"given":"Benjamin","family":"Edmonds","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline P.","family":"Ngo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aran","family":"Groves","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beck","family":"Reyes","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolanda A.","family":"Gott","sequence":"additional","affiliation":[{"name":"Division of Developmental Pediatrics, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis J.","family":"Chia","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilda","family":"Mirbaha","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine UCLA Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0433-5759","authenticated-orcid":false,"given":"Shino","family":"Magaki","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine UCLA Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Negar","family":"Khanlou","sequence":"additional","affiliation":[{"name":"Division of Neuropathology, Department of Pathology and Laboratory Medicine, David Geffen School of Medicine UCLA Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacy L.","family":"Pineles","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, David Geffen School of Medicine UCLA Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Salamon","sequence":"additional","affiliation":[{"name":"Department of Radiological Sciences University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel M.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Orthopedics University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Newman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Physical Medicine and Rehabilitation University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajsekar R.","family":"Rajaraman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-8852","authenticated-orcid":false,"given":"Shaun A.","family":"Hussain","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9703-0964","authenticated-orcid":false,"given":"Aria","family":"Fallah","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, David Geffen School of Medicine UCLA Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca","family":"Russell","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Human Genetics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-2924","authenticated-orcid":false,"given":"Hiroki","family":"Nariai","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, David Geffen School of Medicine UCLA Mattel Children's Hospital  Los Angeles California 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