137 related articles for article (PubMed ID: 18321734)
1. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.
Bahi-Buisson N; El Sabbagh S; Soufflet C; Escande F; Boddaert N; Valayannopoulos V; Bellané-Chantelot C; Lascelles K; Dulac O; Plouin P; de Lonlay P
Seizure; 2008 Oct; 17(7):658-64. PubMed ID: 18321734
[TBL] [Abstract][Full Text] [Related]
2. Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations.
Raizen DM; Brooks-Kayal A; Steinkrauss L; Tennekoon GI; Stanley CA; Kelly A
J Pediatr; 2005 Mar; 146(3):388-94. PubMed ID: 15756227
[TBL] [Abstract][Full Text] [Related]
3. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.
Bahi-Buisson N; Roze E; Dionisi C; Escande F; Valayannopoulos V; Feillet F; Heinrichs C; Chadefaux-Vekemans B; Dan B; de Lonlay P
Dev Med Child Neurol; 2008 Dec; 50(12):945-9. PubMed ID: 19046187
[TBL] [Abstract][Full Text] [Related]
4. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.
Sadleir LG; Paterson S; Smith KR; Redshaw N; Ranta A; Kalnins R; Berkovic SF; Bahlo M; Hildebrand MS; Scheffer IE
Epilepsy Res; 2015 Aug; 114():98-105. PubMed ID: 26088892
[TBL] [Abstract][Full Text] [Related]
5. [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
Siegler Z; Neuwirth M; Hegyi M; Paraicz E; Pálmafy B; Tegzes A; Barsi P; Karcagi V; Claes L; De Jonghe P; Herczegfalvi A; Fogarasi A
Ideggyogy Sz; 2008 Nov; 61(11-12):402-8. PubMed ID: 19070316
[TBL] [Abstract][Full Text] [Related]
6. Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.
Aka S; Alanay Y; Boodhansingh KE; Stanley CA; Semiz S
Turk J Pediatr; 2016; 58(5):541-544. PubMed ID: 28621098
[TBL] [Abstract][Full Text] [Related]
7. Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy.
Pérez Errazquin F; Sempere Fernández J; García Martín G; Chamorro Muñoz MI; Romero Acebal M
Neurologia; 2011 May; 26(4):248-52. PubMed ID: 21163222
[No Abstract] [Full Text] [Related]
8. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism.
Stanley CA
Mol Genet Metab; 2004 Apr; 81 Suppl 1():S45-51. PubMed ID: 15050973
[TBL] [Abstract][Full Text] [Related]
9. Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
Tran C; Konstantopoulou V; Mecjia M; Perlman K; Mercimek-Mahmutoglu S; Kronick JB
J Pediatr Endocrinol Metab; 2015 Jul; 28(7-8):873-6. PubMed ID: 25781533
[TBL] [Abstract][Full Text] [Related]
10. Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
Aso K; Okano Y; Takeda T; Sakamoto O; Ban K; Iida K; Yamano T; Shintaku H
Osaka City Med J; 2011 Jun; 57(1):1-9. PubMed ID: 22106762
[TBL] [Abstract][Full Text] [Related]
11. Myoclonic-astatic epilepsy.
Doose H
Epilepsy Res Suppl; 1992; 6():163-8. PubMed ID: 1418479
[TBL] [Abstract][Full Text] [Related]
12. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
Dervent A; Gibson KM; Pearl PL; Salomons GS; Jakobs C; Yalcinkaya C
Clin Neurophysiol; 2004 Jun; 115(6):1417-22. PubMed ID: 15134710
[TBL] [Abstract][Full Text] [Related]
13. Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.
Rosenfeld E; Nanga RPR; Lucas A; Revell AY; Thomas A; Thomas NH; Roalf DR; Shinohara RT; Reddy R; Davis KA; De León DD
Orphanet J Rare Dis; 2022 Jun; 17(1):248. PubMed ID: 35752848
[TBL] [Abstract][Full Text] [Related]
14. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.
MacMullen C; Fang J; Hsu BY; Kelly A; de Lonlay-Debeney P; Saudubray JM; Ganguly A; Smith TJ; Stanley CA;
J Clin Endocrinol Metab; 2001 Apr; 86(4):1782-7. PubMed ID: 11297618
[TBL] [Abstract][Full Text] [Related]
15. Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report.
de las Heras J; Garin I; de Nanclares GP; Aguayo A; Rica I; Castaño L; Vela A
J Pediatr Endocrinol Metab; 2010 Aug; 23(8):827-30. PubMed ID: 21073125
[TBL] [Abstract][Full Text] [Related]
16. [A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation].
Matsuoka H
Seishin Shinkeigaku Zasshi; 1989; 91(5):318-46. PubMed ID: 2510209
[TBL] [Abstract][Full Text] [Related]
17. Eyelid myoclonia with absences occurring during the clinical course of cryptogenic myoclonic epilepsy of early childhood.
Ohya T; Yamashita Y; Shibuya I; Hara M; Nagamitsu S; Matsuishi T
Eur J Paediatr Neurol; 2012 Jul; 16(4):399-401. PubMed ID: 22153876
[TBL] [Abstract][Full Text] [Related]
18. Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.
Ricci E; Bonfatti R; Rocca A; Sperti G; Cagnazzo V; Vignoli A; Cocchi G; Cordelli DM
Eur J Paediatr Neurol; 2019 Jul; 23(4):653-656. PubMed ID: 31178275
[TBL] [Abstract][Full Text] [Related]
19. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).
Scalais E; Chafai R; Van Coster R; Bindl L; Nuttin C; Panagiotaraki C; Seneca S; Lissens W; Ribes A; Geers C; Smet J; De Meirleir L
Eur J Paediatr Neurol; 2013 Nov; 17(6):625-30. PubMed ID: 23816342
[TBL] [Abstract][Full Text] [Related]
20. Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.
Sarajlija A; Milenkovic T; Djordjevic M; Mitrovic K; Todorovic S; Kecman B; Hussain K
J Clin Res Pediatr Endocrinol; 2016 Jun; 8(2):228-31. PubMed ID: 26759084
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
