These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. Al Mutairi F; Alfadhel M; Nashabat M; El-Hattab AW; Ben-Omran T; Hertecant J; Eyaid W; Ali R; Alasmari A; Kara M; Al-Twaijri W; Filimban R; Alshenqiti A; Al-Owain M; Faqeih E; Alkuraya FS Pediatr Neurol; 2018 Jan; 78():35-40. PubMed ID: 29239743 [TBL] [Abstract][Full Text] [Related]
3. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924 [TBL] [Abstract][Full Text] [Related]
4. The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings. De Giorgis V; Varesio C; Viri M; Giordano L; La Piana R; Tonduti D; Roncarolo F; Masnada S; Pichiecchio A; Veggiotti P; Fazzi E; Orcesi S; Seizure; 2021 Mar; 86():197-209. PubMed ID: 33589296 [TBL] [Abstract][Full Text] [Related]
5. Systemic complications of Aicardi Goutières syndrome using real-world data. Peixoto de Barcelos I; Jan AK; Modesti N; Woidill S; Gavazzi F; Isaacs D; D'Aiello R; Sevagamoorthy A; Charlton L; Pizzino A; Schmidt J; van Haren K; Keller S; Eichler F; Emrick LT; Fraser JL; Shults J; Vanderver A; Adang LA Mol Genet Metab; 2024; 143(1-2):108578. PubMed ID: 39332260 [TBL] [Abstract][Full Text] [Related]
6. Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features. Piccoli C; Bronner N; Gavazzi F; Dubbs H; De Simone M; De Giorgis V; Orcesi S; Fazzi E; Galli J; Masnada S; Tonduti D; Varesio C; Vanderver A; Vossough A; Adang L Pediatr Neurol; 2021 Feb; 115():1-6. PubMed ID: 33307271 [TBL] [Abstract][Full Text] [Related]
7. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Bahi-Buisson N; Guttierrez-Delicado E; Soufflet C; Rio M; Daire VC; Lacombe D; Héron D; Verloes A; Zuberi S; Burglen L; Afenjar A; Moutard ML; Edery P; Novelli A; Bernardini L; Dulac O; Nabbout R; Plouin P; Battaglia A Epilepsia; 2008 Mar; 49(3):509-15. PubMed ID: 18031548 [TBL] [Abstract][Full Text] [Related]
8. Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS). de Barcelos IP; Woidill S; Gavazzi F; Modesti NB; Sevagamoorthy A; Vanderver A; Adang L Mol Genet Metab; 2024 May; 142(1):108346. PubMed ID: 38368708 [TBL] [Abstract][Full Text] [Related]
9. Panayiotopoulos syndrome: a benign childhood autonomic epilepsy frequently imitating encephalitis, syncope, migraine, sleep disorder, or gastroenteritis. Covanis A Pediatrics; 2006 Oct; 118(4):e1237-43. PubMed ID: 16950946 [TBL] [Abstract][Full Text] [Related]
10. Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. Marini C; Darra F; Specchio N; Mei D; Terracciano A; Parmeggiani L; Ferrari A; Sicca F; Mastrangelo M; Spaccini L; Canopoli ML; Cesaroni E; Zamponi N; Caffi L; Ricciardelli P; Grosso S; Pisano T; Canevini MP; Granata T; Accorsi P; Battaglia D; Cusmai R; Vigevano F; Dalla Bernardina B; Guerrini R Epilepsia; 2012 Dec; 53(12):2111-9. PubMed ID: 22946748 [TBL] [Abstract][Full Text] [Related]
11. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients. Caumes R; Boespflug-Tanguy O; Villeneuve N; Lambert L; Delanoe C; Leheup B; Bahi-Buisson N; Auvin S Eur J Paediatr Neurol; 2014 Jul; 18(4):475-81. PubMed ID: 24703762 [TBL] [Abstract][Full Text] [Related]
12. Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. Trivisano M; Specchio N; Cappelletti S; Di Ciommo V; Claps D; Specchio LM; Vigevano F; Fusco L Epilepsy Res; 2011 Nov; 97(1-2):133-41. PubMed ID: 21873030 [TBL] [Abstract][Full Text] [Related]
13. Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis. Ma X; Zhang Y; Yang Y; Liu X; Yang Z; Bao X; Qin J; Wu X Brain Dev; 2011 Oct; 33(9):790-5. PubMed ID: 21764232 [TBL] [Abstract][Full Text] [Related]
14. Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis? Valente KD; Freitas A; Fridman C; Varela M; Silva AE; Fett AC; Koiffmann CP Clin Neurophysiol; 2006 Apr; 117(4):803-9. PubMed ID: 16495142 [TBL] [Abstract][Full Text] [Related]
15. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Doose H; Lunau H; Castiglione E; Waltz S Neuropediatrics; 1998 Oct; 29(5):229-38. PubMed ID: 9810557 [TBL] [Abstract][Full Text] [Related]
16. Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients. Giovannini S; Marangio L; Fusco C; Scarano A; Frattini D; Della Giustina E; Zollino M; Neri G; Gobbi G Epilepsia; 2013 Dec; 54(12):2204-13. PubMed ID: 24116895 [TBL] [Abstract][Full Text] [Related]
17. Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring. Yu HJ; Lee CG; Nam SH; Lee J; Lee M Brain Dev; 2013 Sep; 35(8):771-7. PubMed ID: 23522623 [TBL] [Abstract][Full Text] [Related]
18. Epilepsy in Rett syndrome---the experience of a National Rett Center. Nissenkorn A; Gak E; Vecsler M; Reznik H; Menascu S; Ben Zeev B Epilepsia; 2010 Jul; 51(7):1252-8. PubMed ID: 20491871 [TBL] [Abstract][Full Text] [Related]
19. Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? Fazzi E; Cattalini M; Orcesi S; Tincani A; Andreoli L; Balottin U; De Simone M; Fredi M; Facchetti F; Galli J; Giliani S; Izzotti A; Meini A; Olivieri I; Plebani A Autoimmun Rev; 2013 Feb; 12(4):506-9. PubMed ID: 22940555 [TBL] [Abstract][Full Text] [Related]
20. Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion. Ito Y; Natsume J; Kidokoro H; Ishihara N; Azuma Y; Tsuji T; Okumura A; Kubota T; Ando N; Saitoh S; Miura K; Negoro T; Watanabe K; Kojima S Epilepsia; 2015 Aug; 56(8):1286-93. PubMed ID: 26118313 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]