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1986 2
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33 results

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Page 1
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nerv …
BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distincti …
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and epileptic encephalopathy. Seizures are often treatment refractory, and patie …
OBJECTIVE: Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol glycan anchor biosynthesis class A protein (PI …
Seizure patterns in childhood.
Wolf SM, McGoldrick PE. Wolf SM, et al. Pediatr Ann. 2015 Feb;44(2):e24-9. doi: 10.3928/00904481-20150203-08. Pediatr Ann. 2015. PMID: 25658215 Review.
Severity can range from childhood syndromes that are controlled relatively easily and usually outgrown to epileptic encephalopathies that are associated with severe developmental delay and sometimes death. ...
Severity can range from childhood syndromes that are controlled relatively easily and usually outgrown to epileptic encephalopathi …
Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.
Bonanni P, Baggio M, Duma GM, Negrin S, Danieli A, Giorda R. Bonanni P, et al. Seizure. 2021 Dec;93:133-139. doi: 10.1016/j.seizure.2021.10.019. Epub 2021 Oct 27. Seizure. 2021. PMID: 34740143 Free article. Review.
RESULTS: Clustered generalized tonic-clonic or myoclonic seizures with onset before the age of 18 months and delayed neurodevelopment were present in more than 75% of patients. Epilepsy was pharmaco-resistant in 40%. All the individuals (27%) with normal neurological devel …
RESULTS: Clustered generalized tonic-clonic or myoclonic seizures with onset before the age of 18 months and delayed neurodevelopment were p …
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
OBJECTIVE: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype-genotype relationship and fu …
OBJECTIVE: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic …
Benign and severe early-life seizures: a round in the first year of life.
Pavone P, Corsello G, Ruggieri M, Marino S, Marino S, Falsaperla R. Pavone P, et al. Ital J Pediatr. 2018 May 15;44(1):54. doi: 10.1186/s13052-018-0491-z. Ital J Pediatr. 2018. PMID: 29764460 Free PMC article. Review.
Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug resistant seizures, delayed developmental skills, and intellective disability. This group of disorders includes early infantile e …
Seizure disorders starting in early life include the "epileptic encephalopathies", a group of conditions characterized by drug …
MTOR pathway in focal cortical dysplasia type 2: What do we know?
Majolo F, Marinowic DR, Machado DC, Da Costa JC. Majolo F, et al. Epilepsy Behav. 2018 Aug;85:157-163. doi: 10.1016/j.yebeh.2018.05.014. Epub 2018 Jun 23. Epilepsy Behav. 2018. PMID: 29945038 Review.
Focal cortical dysplasia (FCD) is the most commonly encountered developmental malformation that causes refractory epilepsy. Focal cortical dysplasia type 2 is one of the most usual neuropathological findings in tissues resected therapeutically from patients with dru …
Focal cortical dysplasia (FCD) is the most commonly encountered developmental malformation that causes refractory epilepsy. Fo …
Dyke-Davidoff-Masson Syndrome: Main clinical and radiological findings- systematic literature review.
Rondão MBA, Hsu BRRHS, Centeno RS, de Aguiar PHP. Rondão MBA, et al. Seizure. 2023 Aug;110:58-68. doi: 10.1016/j.seizure.2023.04.020. Epub 2023 Jun 3. Seizure. 2023. PMID: 37327751 Review.
A total of 223 studies were identified, and the results are presented in tables and graphics. RESULTS: The mean age of the patients was 19.44 (0-83 years), and the majority were male (55.32%). The most common types of epileptic seizures were generalised tonic-clonic …
A total of 223 studies were identified, and the results are presented in tables and graphics. RESULTS: The mean age of the patients was 19. …
Transition to adult medical care for adolescents with epilepsy.
Geerlings RP, Aldenkamp AP, de With PH, Zinger S, Gottmer-Welschen LM, de Louw AJ. Geerlings RP, et al. Epilepsy Behav. 2015 Mar;44:127-35. doi: 10.1016/j.yebeh.2014.12.041. Epub 2015 Feb 10. Epilepsy Behav. 2015. PMID: 25679495 Review.
INTRODUCTION: During transition to adult medical care, the adolescent with epilepsy is especially prone to emotional, mental, physical, and social developmental difficulties, leading to stigma and poor psychosocial and socioeconomic outcome in the long term. ...The …
INTRODUCTION: During transition to adult medical care, the adolescent with epilepsy is especially prone to emotional, mental, physica …
Review: Molecular characteristics of long-term epilepsy-associated tumours (LEATs) and mechanisms for tumour-related epilepsy (TRE).
Stone TJ, Rowell R, Jayasekera BAP, Cunningham MO, Jacques TS. Stone TJ, et al. Neuropathol Appl Neurobiol. 2018 Feb;44(1):56-69. doi: 10.1111/nan.12459. Neuropathol Appl Neurobiol. 2018. PMID: 29315734 Review.
Brain tumours are the second most common cause of seizures identified in epilepsy surgical series. ...Tumour-related epilepsy (TRE) has a profound impact on patients with brain tumours and these seizures are often refractory to anti-epileptic tr …
Brain tumours are the second most common cause of seizures identified in epilepsy surgical series. ...Tumour-related epilep …
33 results