Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2000 1
2003 1
2005 1
2012 1
2013 2
2014 3
2015 1
2016 4
2017 3
2018 3
2019 5
2020 4
2021 4
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

30 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy"
Page 1
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Developmental delay degree was not statistically different among patients with or without seizures but feeding difficulties were more frequent in patients with epilepsy. CONCLUSIONS: epilepsy is a frequent comorbidity with a high incidence of spasms and drug resista …
Developmental delay degree was not statistically different among patients with or without seizures but feeding difficulties were more freque …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and enough data are available to recognize these postnatal microcephaly disorders as separate diagnostic entities in their own ri …
These disorders can be identified clinically by phenotyping across multiple neurodevelopmental and neurobehavioral realms, and …
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. ...Follow-up and hitherto unreported clinical features were obtained from the publish …
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder …
Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.
Nouri N, Bahreini A, Nasiri J, Salehi M. Nouri N, et al. Epilepsy Res. 2021 Nov;177:106782. doi: 10.1016/j.eplepsyres.2021.106782. Epub 2021 Oct 5. Epilepsy Res. 2021. PMID: 34695666
Variants in 28 genes have not been previously reported in Iranian patients with ID. Several additional phenotypes, mostly microcephaly, were common in 57.4 % of cases. Additionally, epilepsy was refractory in 40 % of patients. Three groups of brain anomalies …
Variants in 28 genes have not been previously reported in Iranian patients with ID. Several additional phenotypes, mostly microcephaly …
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
The deep characterization of the molecular and phenotypic spectrum confirmed TTC5-related disorder as a recognizable, very severe neurodevelopmental syndrome. ...Microcephaly and facial dysmorphism resulted in being less variable than that documented before. …
The deep characterization of the molecular and phenotypic spectrum confirmed TTC5-related disorder as a recognizable, very severe …
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families.
Fattal-Valevski A, Ben Sira L, Lerman-Sagie T, Strausberg R, Bloch-Mimouni A, Edvardson S, Kaufman R, Chernuha V, Schneebaum Sender N, Heimer G, Ben Zeev B. Fattal-Valevski A, et al. Eur J Paediatr Neurol. 2021 May;32:40-45. doi: 10.1016/j.ejpn.2020.08.011. Epub 2021 Mar 5. Eur J Paediatr Neurol. 2021. PMID: 33756211
BACKGROUND: and Purpose: Postnatal progressive microcephaly, with seizures and brain atrophy (OMIM # 613668) is a rare disorder caused by a homozygous founder missense mutation c.1112T>C (p.L371P) in the MED17 gene on chromosome 11 that was identifi …
BACKGROUND: and Purpose: Postnatal progressive microcephaly, with seizures and brain atrophy (OMIM # 613668) is a rare …
Brain white matter abnormalities associated with copy number variants.
Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A. Vigdorovich N, et al. Am J Med Genet A. 2020 Jan;182(1):93-103. doi: 10.1002/ajmg.a.61389. Epub 2019 Oct 17. Am J Med Genet A. 2020. PMID: 31622028
White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic resonance imaging (MRI). ...This study aims to characterize the WM changes found in microdeletion/microduplication syndromes. Thirteen patients w …
White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic reson …
An updated literature review on maternal-fetal and reproductive disorders of Toxoplasma gondii infection.
Fallahi S, Rostami A, Nourollahpour Shiadeh M, Behniafar H, Paktinat S. Fallahi S, et al. J Gynecol Obstet Hum Reprod. 2018 Mar;47(3):133-140. doi: 10.1016/j.jogoh.2017.12.003. Epub 2017 Dec 8. J Gynecol Obstet Hum Reprod. 2018. PMID: 29229361 Review.
RESULTS: T. gondii infection could be cause of several abnormalities from hydrocephalus, microcephaly, deafness, abortion and still birth in fetal to psychomotor retardation, intellectual disability, hearing loss, slower postnatal motor development during the first year of …
RESULTS: T. gondii infection could be cause of several abnormalities from hydrocephalus, microcephaly, deafness, abortion and still b …
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Schneeberger PE, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely AS, Müller T, Plecko B, Janecke AR, Kutsche K. Schneeberger PE, et al. Brain. 2021 Nov 29;144(10):3036-3049. doi: 10.1093/brain/awab206. Brain. 2021. PMID: 34037727
Individuals with biallelic hypomorphic variants in VPS50, VPS51 or VPS53 show an overarching neurodegenerative disorder with severe developmental delay, intellectual disability, microcephaly, early-onset epilepsy and variable atrophy of the cerebellum, …
Individuals with biallelic hypomorphic variants in VPS50, VPS51 or VPS53 show an overarching neurodegenerative disorder with severe d …
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). ...EEGs reveal that epilepti …
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently as …
30 results