Results 31 to 40 of about 2,873 (179)

Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly

Case Reports in Pediatrics, 2022
Perampanel is a noncompetitive, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptor antagonist. Herein, we report a case of increased perampanel plasma concentration and impaired consciousness triggered by an infection.
Yuya Kinoshita, Hiroe Ueno, Hirofumi Kurata, Chizuru Ikeda, Erika Hori, Takumi Okada, Tomoyuki Shimazu, Isao Fujii, Makoto Matsukura, Hoseki Imamura   +9 more
doaj   +1 more source

A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation [PDF]

Neonatal Medicine, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare genetic disorder characterized by megalencephaly, polymicrogyria, body overgrowth, and cutaneous capillary malformations. It has been reported recently that MCAP is related to
Young Mi Park, Yoon-Myung Kim, Seong Hee Oh, Hyun-Seung Jin   +3 more
doaj   +1 more source

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

Hemisferectomia funcional precoce na hemimegalencefalia associada à epilepsia refratária Early functional hemispherectomy in hemimegalencephaly associated to refractory epilepsy

Arquivos de Neuro-Psiquiatria, 2004
A hemimegalencefalia (HME) é malformação congênita cerebral rara de etiologia desconhecida que pode se apresentar com síndrome epiléptica de início precoce e resistente à terapia com anticonvulsivantes, associada a comprometimento significativo do ...
Luiz Fernando Fonseca, Renato Pacheco de Melo, Arthur Cukiert, Jose Augusto Burattini, Pedro Paulo Mariani, Ródio Brandão, Lauro Ceda, Cristine Mella Baldauf, Meire Argentoni, Cássio Forster, Carla Baise   +10 more
doaj   +1 more source

Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome

Indian Dermatology Online Journal, 2015
Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs.
Niharika R Lal, Debabrata Bandyopadhyay, Asim K Sarkar   +2 more
doaj   +1 more source

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Epilepsia Open, 2020
Objectives Recently, defects in the protein kinase mTOR (mammalian target of rapamycin) and its associated pathway have been correlated with hemimegalencephaly (HME).
Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado   +14 more
doaj   +1 more source

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. [PDF]

, 2016
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the ...
Farkas, Katalin, Horváth, Emese, Knox, Rachel, Nagy, Nikoletta, Parker, Victoria, Semple, Robert, Sulák, Adrien, Széll, Márta, Tripolszki, Kornélia   +8 more
core   +3 more sources

Hemimegalencephaly

, 2017
Clinical History Image Findings Discussion Find Diagnosis Differential ...
  +4 more sources

Epilepsy in Muenke Syndrome

Pediatric Neurology Briefs, 2012
Researchers at the National Institutes of Health, Bethesda, MD; Children’s National Medical Center; and George Washington University, Washington, DC present 7 patients with Muenke syndrome complicated by epilepsy.
J Gordon Millichap
doaj   +1 more source

Surgery for Epilepsy due to Cortical Malformation

Pediatric Neurology Briefs, 2000
Seizure outcome after surgery for focal epilepsy due to malformation of cortical development (MCD), identified by MRI, was evaluated in 35 patients aged 3 months to 47 years (median, 14 years) operated at the Cleveland Clinic Foundation.
J Gordon Millichap
doaj   +1 more source