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About 258 results

ALLMedicine™ Hemimegalencephaly Center

Research & Reviews  97 results

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
https://doi.org/10.1093/brain/awac117
Brain : a Journal of Neurology; Lai D, Gade M et. al.

Apr 21st, 2022 - Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic varia...

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for ...
https://doi.org/10.1093/brain/awab376
Brain : a Journal of Neurology; Pirozzi F, Berkseth M et. al.

Apr 1st, 2022 - Focal malformations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and architectural dysplasia, intractab...

Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993194
AJNR. American Journal of Neuroradiology; Goergen SK, Fahey MC

Mar 26th, 2022 - Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ≤24 weeks' gestat...

Efficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalence...
https://doi.org/10.1097/PEC.0000000000002654 10.1016/j.seizure.2018.05.012
Pediatric Emergency Care; Brisca G, Pirlo D et. al.

Mar 1st, 2022 - Efficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalencephaly.|2022|Brisca G,Pirlo D,Prato G,Tortora D,Siri L,|therapeutic use,therapeutic use,drug therapy,etiology,

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
https://clinicaltrials.gov/ct2/show/NCT02890641

Feb 2nd, 2022 - Brain somatic mutations in genes belonging to the mTOR pathway are well recognized in malformations of the cortical development, such as focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations i...

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Clinicaltrials.gov  1 results

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
https://clinicaltrials.gov/ct2/show/NCT02890641

Feb 2nd, 2022 - Brain somatic mutations in genes belonging to the mTOR pathway are well recognized in malformations of the cortical development, such as focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations i...

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News  5 results

Staged hemispheric embolization: How to treat hemimegalencephaly within days of birth
https://www.mdedge.com/surgery/article/216508/pediatrics/staged-hemispheric-embolization-how-treat-hemimegalencephaly?channel=39313
M. Alexander Otto

Feb 1st, 2020 - BALTIMORE – About one in 4,000 children are born with hemimegalencephaly, meaning one brain hemisphere is abnormally formed and larger than the other. Dr.

Staged hemispheric embolization: How to treat hemimegalencephaly within days of birth
https://www.mdedge.com/neurology/article/216508/pediatrics/staged-hemispheric-embolization-how-treat-hemimegalencephaly
M. Alexander Otto

Feb 1st, 2020 - BALTIMORE – About one in 4,000 children are born with hemimegalencephaly, meaning one brain hemisphere is abnormally formed and larger than the other. Dr.

Yellow-Orange Hairless Plaque on the Scalp
https://www.mdedge.com/dermatology/article/156893/pediatrics/yellow-orange-hairless-plaque-scalp
Ahdi Amer, MD

Jan 23rd, 2018 - The Diagnosis: Nevus Sebaceous The patient presented with a typical solitary scalp lesion characteristic of nevus sebaceous (NS). The lesion was present at birth as a flat and smooth hairless plaque; however, over time it became more thickened and.

HPV and Seizures: Another Reason to Vaccinate?
https://www.medscape.com/viewarticle/811258

Sep 23rd, 2013 - Two Reports: HPV and Focal Cortical Dysplasia Two amazing research papers concerning the human papillomavirus (HPV) have recently appeared in distantly related medical journals. The first article was published in the Journal of Infectious Diseases...

Cortical Malformation Type Determines Deficits in Epilepsy
https://www.mdedge.com/clinicalneurologynews/article/48142/epilepsy-seizures/cortical-malformation-type-determines-deficits
Michele G. Sullivan

MADRID — Patients with microcephaly, hemimegalencephaly, tuberous sclerosis, and polymicrogyria have an earlier onset of epilepsy and are more likely to experience comorbid neurologic and cognitive deficits than are patients with other malformatio.

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