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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 30323019)

  • 1. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
    Sega AG; Mis EK; Lindstrom K; Mercimek-Andrews S; Ji W; Cho MT; Juusola J; Konstantino M; Jeffries L; Khokha MK; Lakhani SA
    J Med Genet; 2019 Feb; 56(2):113-122. PubMed ID: 30323019
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.
    Sakpichaisakul K; Boonkrongsak R; Lertbutsayanukul P; Iemwimangsa N; Klumsathian S; Panthan B; Trachoo O
    BMC Neurol; 2022 Dec; 22(1):461. PubMed ID: 36494631
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
    Mis EK; Sega AG; Signer RH; Cartwright T; Ji W; Martinez-Agosto JA; Nelson SF; Palmer CGS; Lee H; Mitzelfelt T; Konstantino M; ; Jeffries L; Khokha MK; Marco E; Martin MG; Lakhani SA
    Am J Med Genet A; 2021 Apr; 185(4):1076-1080. PubMed ID: 33438828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Knockdown of NeuroD2 leads to seizure-like behavior, brain neuronal hyperactivity and a leaky blood-brain barrier in a Xenopus laevis tadpole model of DEE75.
    Banerjee S; Szyszka P; Beck CW
    Genetics; 2024 Jul; 227(3):. PubMed ID: 38788202
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India.
    Murthy MC; Banerjee B; Shetty M; Mariappan M; Sekhsaria A
    Epileptic Disord; 2024 Oct; 26(5):609-625. PubMed ID: 38923778
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
    Politano D; Gana S; Pezzotti E; Berardinelli A; Pasca L; Carmen Barbero V; Pichiecchio A; Maria Valente E; Errichiello E
    Brain Dev; 2023 Mar; 45(3):179-184. PubMed ID: 36446697
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
    Velíšková J; Marra C; Liu Y; Shekhar A; Park DS; Iatckova V; Xie Y; Fishman GI; Velíšek L; Goldfarb M
    Epilepsia; 2021 Jul; 62(7):1546-1558. PubMed ID: 33982289
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
    Carvill GL; Liu A; Mandelstam S; Schneider A; Lacroix A; Zemel M; McMahon JM; Bello-Espinosa L; Mackay M; Wallace G; Waak M; Zhang J; Yang X; Malone S; Zhang YH; Mefford HC; Scheffer IE
    Epilepsia; 2018 Jan; 59(1):e5-e13. PubMed ID: 29171013
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
    Lin KM; Su G; Wang F; Zhang X; Wang Y; Ren J; Wang X; Yao Y; Zhou Y
    BMC Pediatr; 2019 Nov; 19(1):400. PubMed ID: 31672125
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
    Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
    Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
    Nakashima M; Kato M; Aoto K; Shiina M; Belal H; Mukaida S; Kumada S; Sato A; Zerem A; Lerman-Sagie T; Lev D; Leong HY; Tsurusaki Y; Mizuguchi T; Miyatake S; Miyake N; Ogata K; Saitsu H; Matsumoto N
    Ann Neurol; 2018 Apr; 83(4):794-806. PubMed ID: 29534297
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH; Shin S; Yang D; Kim B; Kim HD; Kim S; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
    Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
    Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
    Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.
    Song Z; Zhang Y; Yang C; Yi Z; Li F; Xue J; Yang X; Li B
    Int J Dev Neurosci; 2021 Nov; 81(7):663-668. PubMed ID: 33914968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 19. Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
    He N; Lin ZJ; Wang J; Wei F; Meng H; Liu XR; Chen Q; Su T; Shi YW; Yi YH; Liao WP
    Genet Med; 2019 Jan; 21(1):17-27. PubMed ID: 29895856
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
    Arnadottir GA; Jensson BO; Marelsson SE; Sulem G; Oddsson A; Kristjansson RP; Benonisdottir S; Gudjonsson SA; Masson G; Thorisson GA; Saemundsdottir J; Magnusson OT; Jonasdottir A; Jonasdottir A; Sigurdsson A; Gudbjartsson DF; Thorsteinsdottir U; Arngrimsson R; Sulem P; Stefansson K
    BMC Med Genet; 2017 Oct; 18(1):103. PubMed ID: 28965491
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.