Format

Send to:

Choose Destination
  • CN477042 has been replaced by C4540034, showing C4540034

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56(EIEE56)

MedGen UID:
1621755
Concept ID:
C4540034
Disease or Syndrome
Synonyms: EIEE56
 
Gene (location): YWHAG (7q11.23)
OMIM®: 617665

Definition

EIEE56 is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by intellectual disability, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). [from OMIM]

Recent clinical studies

Etiology

Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J
Clin Genet 2017 May;91(5):717-724. Epub 2017 Feb 16 doi: 10.1111/cge.12901. PMID: 27779742
Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M
Epilepsia 2015 Dec;56(12):1931-40. Epub 2015 Oct 29 doi: 10.1111/epi.13214. PMID: 26514728
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR
Epilepsia 2015 May;56(5):685-91. Epub 2015 Apr 16 doi: 10.1111/epi.12984. PMID: 25880994
Duszyc K, Terczynska I, Hoffman-Zacharska D
J Appl Genet 2015 Feb;56(1):49-56. Epub 2014 Sep 10 doi: 10.1007/s13353-014-0243-8. PMID: 25204757
Ngoh A, McTague A, Wentzensen IM, Meyer E, Applegate C, Kossoff EH, Batista DA, Wang T, Kurian MA
Dev Med Child Neurol 2014 Nov;56(11):1124-8. Epub 2014 Mar 29 doi: 10.1111/dmcn.12450. PMID: 24684524Free PMC Article

Diagnosis

Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J
Clin Genet 2017 May;91(5):717-724. Epub 2017 Feb 16 doi: 10.1111/cge.12901. PMID: 27779742
Mohamed S, El Melegy EM, Talaat I, Hosny A, Abu-Amero KK
Pediatr Neonatol 2015 Dec;56(6):393-401. Epub 2015 Apr 28 doi: 10.1016/j.pedneo.2015.02.004. PMID: 26117549
Bitton JY, Demos M, Elkouby K, Connolly M, Weiss SK, Donner EJ, Whiting S, Ronen GM, Bello-Espinosa L, Wirrell EC, Mohamed IS, Dooley JM, Carmant L
Epilepsia 2015 Jun;56(6):856-63. Epub 2015 May 5 doi: 10.1111/epi.12997. PMID: 25944453
Ngoh A, McTague A, Wentzensen IM, Meyer E, Applegate C, Kossoff EH, Batista DA, Wang T, Kurian MA
Dev Med Child Neurol 2014 Nov;56(11):1124-8. Epub 2014 Mar 29 doi: 10.1111/dmcn.12450. PMID: 24684524Free PMC Article
Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R
Eur J Med Genet 2013 Dec;56(12):683-5. Epub 2013 Oct 3 doi: 10.1016/j.ejmg.2013.09.013. PMID: 24095819

Therapy

Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J
Clin Genet 2017 May;91(5):717-724. Epub 2017 Feb 16 doi: 10.1111/cge.12901. PMID: 27779742
Ahmed S, Alam ST, Rahman MM, Akhter S
Mymensingh Med J 2016 Jan;25(1):96-101. PMID: 26931257
Bitton JY, Demos M, Elkouby K, Connolly M, Weiss SK, Donner EJ, Whiting S, Ronen GM, Bello-Espinosa L, Wirrell EC, Mohamed IS, Dooley JM, Carmant L
Epilepsia 2015 Jun;56(6):856-63. Epub 2015 May 5 doi: 10.1111/epi.12997. PMID: 25944453
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR
Epilepsia 2015 May;56(5):685-91. Epub 2015 Apr 16 doi: 10.1111/epi.12984. PMID: 25880994
Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL
Dev Med Child Neurol 2014 May;56(5):498-502. Epub 2013 Nov 23 doi: 10.1111/dmcn.12346. PMID: 24266778

Prognosis

Baba H, Toda K, Ono T, Honda R, Baba S
Epilepsia 2018 Dec;59(12):2231-2239. Epub 2018 Nov 5 doi: 10.1111/epi.14594. PMID: 30395353
Ahmed S, Alam ST, Rahman MM, Akhter S
Mymensingh Med J 2016 Jan;25(1):96-101. PMID: 26931257
Bitton JY, Demos M, Elkouby K, Connolly M, Weiss SK, Donner EJ, Whiting S, Ronen GM, Bello-Espinosa L, Wirrell EC, Mohamed IS, Dooley JM, Carmant L
Epilepsia 2015 Jun;56(6):856-63. Epub 2015 May 5 doi: 10.1111/epi.12997. PMID: 25944453
Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
Epilepsia 2015 Jun;56(6):841-8. Epub 2015 Apr 10 doi: 10.1111/epi.12987. PMID: 25864721
Eltze CM, Chong WK, Cox T, Whitney A, Cortina-Borja M, Chin RF, Scott RC, Cross JH
Epilepsia 2013 Mar;54(3):437-45. Epub 2012 Dec 17 doi: 10.1111/epi.12046. PMID: 23252366

Clinical prediction guides

Zhang Q, Li J, Zhao Y, Bao X, Wei L, Wang J
Clin Genet 2017 May;91(5):717-724. Epub 2017 Feb 16 doi: 10.1111/cge.12901. PMID: 27779742
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N
Epilepsia 2015 Sep;56(9):e121-8. Epub 2015 Jul 3 doi: 10.1111/epi.13072. PMID: 26140313
Bitton JY, Demos M, Elkouby K, Connolly M, Weiss SK, Donner EJ, Whiting S, Ronen GM, Bello-Espinosa L, Wirrell EC, Mohamed IS, Dooley JM, Carmant L
Epilepsia 2015 Jun;56(6):856-63. Epub 2015 May 5 doi: 10.1111/epi.12997. PMID: 25944453
Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
Epilepsia 2015 Jun;56(6):841-8. Epub 2015 Apr 10 doi: 10.1111/epi.12987. PMID: 25864721
Barcia G, Barnerias C, Rio M, Siquier-Pernet K, Desguerre I, Colleaux L, Munnich A, Rotig A, Nabbout R
Eur J Med Genet 2013 Dec;56(12):683-5. Epub 2013 Oct 3 doi: 10.1016/j.ejmg.2013.09.013. PMID: 24095819

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center