150 related articles for article (PubMed ID: 29478218)
21. A term neonate with early myoclonic encephalopathy caused by
Xu Y; Wu BB; Wang HJ; Zhou SZ; Cheng GQ; Zhou YF
Transl Pediatr; 2020 Oct; 9(5):707-712. PubMed ID: 33209735
[TBL] [Abstract][Full Text] [Related]
22. A case of Raine syndrome presenting with facial dysmorphy and review of literature.
Sheth J; Bhavsar R; Gandhi A; Sheth F; Pancholi D
BMC Med Genet; 2018 May; 19(1):76. PubMed ID: 29751744
[TBL] [Abstract][Full Text] [Related]
23. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.
Fattal-Valevski A; Kesler A; Sela BA; Nitzan-Kaluski D; Rotstein M; Mesterman R; Toledano-Alhadef H; Stolovitch C; Hoffmann C; Globus O; Eshel G
Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431
[TBL] [Abstract][Full Text] [Related]
24. BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
Albanyan S; Al Teneiji A; Monfared N; Mercimek-Mahmutoglu S
Am J Med Genet A; 2017 Jun; 173(6):1640-1643. PubMed ID: 28332767
[TBL] [Abstract][Full Text] [Related]
25. PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
Pavone P; Corsello G; Cho SY; Pappalardo XG; Ruggieri M; Marino SD; Jin DK; Marino S; Falsaperla R
Ital J Pediatr; 2019 Dec; 45(1):159. PubMed ID: 31801583
[TBL] [Abstract][Full Text] [Related]
26. Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Al Balushi A; Matviychuk D; Jobling R; Salomons GS; Blaser S; Mercimek-Andrews S
JIMD Rep; 2020 Jan; 51(1):3-10. PubMed ID: 32071833
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M; Wang J; Dai H; El-Hattab AW; Faqeih EA; Saleh MA; Al Asmari A; Alwadei AH; Aljadhai YI; AlHashem A; Tabarki B; Lines MA; Grange DK; Benini R; Alsaman AS; Mahmoud A; Katsonis P; Lichtarge O; Wong LC
Mol Genet Metab; 2018 Nov; 125(3):281-291. PubMed ID: 30177229
[TBL] [Abstract][Full Text] [Related]
29. A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype.
Nolan DA; Chen B; Michon AM; Salatka E; Arndt D
Epileptic Disord; 2019 Feb; 21(1):112-116. PubMed ID: 30767894
[TBL] [Abstract][Full Text] [Related]
30. Clinical and Genetic Characteristics of Mitochondrial Encephalopathy Due to
Hu C; Xu Q; Shen J; Wang Y
Front Neurol; 2021; 12():633397. PubMed ID: 33613441
[No Abstract] [Full Text] [Related]
31. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB; Gorza M; Danhauser K; Mayr JA; Haberberger B; Wieland T; Kremer L; Strecker V; Graf E; Memari Y; Ahting U; Kopajtich R; Wortmann SB; Rodenburg RJ; Kotzaeridou U; Hoffmann GF; Sperl W; Wittig I; Wilichowski E; Schottmann G; Schuelke M; Plecko B; Stephani U; Strom TM; Meitinger T; Prokisch H; Freisinger P
Mol Genet Metab; 2014 Mar; 111(3):342-352. PubMed ID: 24461907
[TBL] [Abstract][Full Text] [Related]
32. Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.
Costa P; Zanus C; Faletra F; Ventura G; di Marzio GM; Cervesi C; Carrozzi M
Epileptic Disord; 2019 Oct; 21(5):466-470. PubMed ID: 31617495
[TBL] [Abstract][Full Text] [Related]
33. A case report: New-onset refractory status epilepticus in a patient with
Astner-Rohracher A; Mauritz M; Leitinger M; Rossini F; Kalss G; Neuray C; Retter E; Wortmann SB; Achleitner MT; Mayr JA; Trinka E
Front Neurol; 2022; 13():1063733. PubMed ID: 36712458
[TBL] [Abstract][Full Text] [Related]
34. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of
Poquérusse J; Nolan M; Thorburn DR; Van Hove JLK; Friederich MW; Love DR; Taylor J; Powell CA; Minczuk M; Snell RG; Lehnert K; Glamuzina E; Jacobsen JC
JIMD Rep; 2023 May; 64(3):223-232. PubMed ID: 37151360
[TBL] [Abstract][Full Text] [Related]
35. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
[No Abstract] [Full Text] [Related]
36. FARS2 Mutations: More Than Two Phenotypes? A Case Report.
Hotait M; Nasreddine W; El-Khoury R; Dirani M; Nawfal O; Beydoun A
Front Genet; 2020; 11():787. PubMed ID: 32774346
[TBL] [Abstract][Full Text] [Related]
37. [Clinical and genetic characteristics of 62 children with mitochondrial epilepsy].
Han XD; Fang F; Li H; Liu ZM; Shi YQ; Wang JL; Ren XT; Ding CH; Chen CH; Li JW; Zhang WH; Deng J
Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):844-851. PubMed ID: 31665838
[No Abstract] [Full Text] [Related]
38. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.
Finsterer J; Mehri S
Cureus; 2023 Aug; 15(8):e43969. PubMed ID: 37746452
[TBL] [Abstract][Full Text] [Related]
39. Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.
Seaver LH; DeRoos S; Andersen NJ; Betz B; Prokop J; Lannen N; Jordan R; Rajasekaran S
Pediatr Neurol; 2018 Dec; 89():26-30. PubMed ID: 30327238
[TBL] [Abstract][Full Text] [Related]
40. Expanding the Clinical Spectrum of
Hannah-Shmouni F; MacNeil L; Brady L; Nilsson MI; Tarnopolsky M
Front Neurol; 2019; 10():981. PubMed ID: 31636596
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
