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Year Number of Results
1993 1
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1999 1
2001 1
2002 1
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2004 2
2005 1
2007 1
2008 2
2009 1
2010 2
2011 1
2012 4
2013 4
2015 2
2016 2
2017 2
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2022 2
2023 5
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45 results

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Page 1
Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.
Sidira C, Vargiami E, Dragoumi P, Zafeiriou DI. Sidira C, et al. Eur J Paediatr Neurol. 2021 Jan;30:58-65. doi: 10.1016/j.ejpn.2020.12.007. Epub 2020 Dec 23. Eur J Paediatr Neurol. 2021. PMID: 33387903 Review.
Hemimegalencephaly is a rare malformation of cortical development characterised by enlargement of one cerebral hemisphere. The association between hemimegalencephaly and tuberous sclerosis complex, an autosomal dominant genetic disorder, is uncommon and has so far b …
Hemimegalencephaly is a rare malformation of cortical development characterised by enlargement of one cerebral hemisphere. The associ …
Precision Therapy for Epilepsy Related to Brain Malformations.
D'Gama AM, Poduri A. D'Gama AM, et al. Neurotherapeutics. 2021 Jul;18(3):1548-1563. doi: 10.1007/s13311-021-01122-6. Epub 2021 Oct 4. Neurotherapeutics. 2021. PMID: 34608615 Free PMC article. Review.
TSC currently represents the best example for the pathway from gene discovery to relatively safe and efficacious targeted therapy for epilepsy related to MCDs. Based on extensive pre-clinical and clinical data, the mTOR inhibitor everolimus is currently approved for …
TSC currently represents the best example for the pathway from gene discovery to relatively safe and efficacious targeted therapy for epilep …
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.
Morin G, Degrugillier-Chopinet C, Vincent M, Fraissenon A, Aubert H, Chapelle C, Hoguin C, Dubos F, Catteau B, Petit F, Mezel A, Domanski O, Herbreteau G, Alesandrini M, Boddaert N, Boutry N, Broissand C, Han TK, Branle F, Sarnacki S, Blanc T, Guibaud L, Canaud G. Morin G, et al. J Exp Med. 2022 Mar 7;219(3):e20212148. doi: 10.1084/jem.20212148. Epub 2022 Jan 26. J Exp Med. 2022. PMID: 35080595 Free PMC article.
Patient 2 was a 9-mo-old boy presenting with asymmetrical body overgrowth and right hemimegalencephaly with West syndrome. After 12 mo of follow-up, alpelisib treatment was associated with improvement in signs and symptoms, morphological lesions and vascular anomalies in t …
Patient 2 was a 9-mo-old boy presenting with asymmetrical body overgrowth and right hemimegalencephaly with West syndrome. After 12 m …
PI3K/mTOR Pathway Inhibition: Opportunities in Oncology and Rare Genetic Diseases.
Hillmann P, Fabbro D. Hillmann P, et al. Int J Mol Sci. 2019 Nov 18;20(22):5792. doi: 10.3390/ijms20225792. Int J Mol Sci. 2019. PMID: 31752127 Free PMC article. Review.
In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase and tensin homolog) hamartomas, tuberous sclerosis complex (TSC), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (P …
In particular, genetically induced PI3K/mTOR pathway activation causes rare disorders, known as overgrowth syndromes, like PTEN (phosphatase …
What to do in failed hemispherotomy? Our clinical series and review of the literature.
Bartoli A, El Hassani Y, Jenny B, Momjian S, Korff CM, Seeck M, Vulliemoz S, Schaller K. Bartoli A, et al. Neurosurg Rev. 2018 Jan;41(1):125-132. doi: 10.1007/s10143-017-0888-y. Epub 2017 Aug 10. Neurosurg Rev. 2018. PMID: 28799142 Review.
Twenty-four patients who underwent hemispherotomies for refractory epilepsy were identified between 2007 and 2016. Patients' notes were checked for demographics, history, clinical presentation, preoperative workup, medical treatment, age at first hemispherotomy, and surgic …
Twenty-four patients who underwent hemispherotomies for refractory epilepsy were identified between 2007 and 2016. Patients' notes were chec …
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Forde K, Resta N, Ranieri C, Rea D, Kubassova O, Hinton M, Andrews KA, Semple R, Irvine AD, Dvorakova V. Forde K, et al. Orphanet J Rare Dis. 2021 Feb 27;16(1):109. doi: 10.1186/s13023-021-01745-0. Orphanet J Rare Dis. 2021. PMID: 33639990 Free PMC article. Clinical Trial.
RESULTS: Two patients, one with CLOVES variant (P1) and one with facial infiltrating lipomatosis and hemimegalencephaly (P2), were commenced on miransertib treatment on a compassionate use basis. ...CONCLUSION: We report the first paediatric case series of the use of miran …
RESULTS: Two patients, one with CLOVES variant (P1) and one with facial infiltrating lipomatosis and hemimegalencephaly (P2), were co …
Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience.
Goel K, Phillips HW, Chen JS, Ngo J, Edmonds B, Ha PX, Wang A, Weil A, Russell BE, Salamon N, Nariai H, Fallah A. Goel K, et al. Epilepsia. 2024 Jan;65(1):57-72. doi: 10.1111/epi.17807. Epub 2023 Nov 11. Epilepsia. 2024. PMID: 37873610
OBJECTIVES: Hemimegalencephaly (HME) is a rare congenital brain malformation presenting predominantly with drug-resistant epilepsy. ...Seizure freedom, functional outcomes, and operative complications were compared across surgical approaches. Regression analysis identified …
OBJECTIVES: Hemimegalencephaly (HME) is a rare congenital brain malformation presenting predominantly with drug-resistant epilepsy. . …
Role of epilepsy surgery in refractory status epilepticus in children.
Jagtap SA, Kurwale N, Patil S, Bapat D, Chitnis S, Thakor B, Joshi A, Deshmukh Y, Nilegaonkar S. Jagtap SA, et al. Epilepsy Res. 2021 Oct;176:106744. doi: 10.1016/j.eplepsyres.2021.106744. Epub 2021 Aug 19. Epilepsy Res. 2021. PMID: 34474240
The role of epilepsy surgery (ES) for refractory SE however remains unclear with empirical evidence limited to single case reports and small case series. The aim of the present study was to determine the clinical presentation, imaging characteristics and outcome of childre …
The role of epilepsy surgery (ES) for refractory SE however remains unclear with empirical evidence limited to single case reports and small …
Update on epilepsy in pediatric patients.
Zupanc ML. Zupanc ML. Mayo Clin Proc. 1996 Sep;71(9):899-916. doi: 10.4065/71.9.899. Mayo Clin Proc. 1996. PMID: 8790270 Review.
Patients with certain catastrophic seizure disorders, such as Sturge-Weber syndrome or hemimegalencephaly, require prompt intervention with hemispherectomy. The presurgical evaluation relies heavily on the magnetic resonance imaging, positron emission tomography, and singl …
Patients with certain catastrophic seizure disorders, such as Sturge-Weber syndrome or hemimegalencephaly, require prompt interventio …
Focal brain malformations: seizures, signaling, sequencing.
Crino PB. Crino PB. Epilepsia. 2009 Oct;50 Suppl 9:3-8. doi: 10.1111/j.1528-1167.2009.02289.x. Epilepsia. 2009. PMID: 19761448 Free article.
Recent studies have provided new insights into the developmental pathogenesis of cortical malformations specifically relating to alterations in cell signaling though the mammalian target of rapamycin (mTOR) pathway. Focal cortical dysplasias, hemimegalencephaly, and tubers …
Recent studies have provided new insights into the developmental pathogenesis of cortical malformations specifically relating to alterations …
45 results