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2014 2
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Page 1
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F. D'Antonio F, et al. Pediatrics. 2016 Sep;138(3):e20160445. doi: 10.1542/peds.2016-0445. Pediatrics. 2016. PMID: 27581855 Review.
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. ...LIMITATIONS: Different neurodevelopmental tools and time of follow-u …
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the o …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal b …
ODLURO syndrome: personal experience and review of the literature.
Conforti R, Iovine S, Santangelo G, Capasso R, Cirillo M, Fratta M, Caranci F. Conforti R, et al. Radiol Med. 2021 Feb;126(2):316-322. doi: 10.1007/s11547-020-01255-2. Epub 2020 Jul 20. Radiol Med. 2021. PMID: 32691224 Review.
METHODS: We reviewed the 38 cases collected by O'Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E gene; different degrees of neurological disorder, subtle dysmorphic features, intellectual disability, epilepsy, and various …
METHODS: We reviewed the 38 cases collected by O'Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E …
Neurological Phenotype of Mowat-Wilson Syndrome.
Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Cordelli DM, et al. Genes (Basel). 2021 Jun 27;12(7):982. doi: 10.3390/genes12070982. Genes (Basel). 2021. PMID: 34199024 Free PMC article. Review.
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...Subsequently, the different neurological aspects of MWS (head and brain malformations, epilepsy, sleep disorders, and enteric and p …
Mowat-Wilson Syndrome (MWS) (OMIM # 235730) is a rare disorder due to ZEB2 gene defects (heterozygous mutation or deletion). ...Subse …
The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y. Frank Y. Pediatr Neurol. 2021 Sep;122:59-64. doi: 10.1016/j.pediatrneurol.2021.06.002. Epub 2021 Jun 16. Pediatr Neurol. 2021. PMID: 34325981 Review.
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. ...Sleep disturbances and increased pain tolerance are frequent parental complaints. Seizures and epilepsy are common, affecting more than 40 …
Phelan-McDermid syndrome (PMS) is a genetic disorder, caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3. ...Sleep …
Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.
Ebrahimi-Fakhari D. Ebrahimi-Fakhari D. Neuropediatrics. 2018 Feb;49(1):18-25. doi: 10.1055/s-0037-1608652. Epub 2017 Nov 7. Neuropediatrics. 2018. PMID: 29112993 Review.
This novel and evolving group of disorders is characterized by prominent central nervous system involvement leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration. Predominant involvem …
This novel and evolving group of disorders is characterized by prominent central nervous system involvement leading to brain malforma …
PPP2R1A-Related Neurodevelopmental Disorder: The First Korean Case with a Novel Variant of PPP2R1A and Literature Review.
Lee J, Yoo J, Lee S, Lee JW, Park EG. Lee J, et al. Ann Clin Lab Sci. 2023 Sep;53(5):792-799. Epub 2023 Nov 9. Ann Clin Lab Sci. 2023. PMID: 37945024 Review.
In 2015, germline mutations in PPP2R1A were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases of PPP2R1A-related NDDs have been reported. ...The proband, a 12-month-old female, presented with developmental delay, intractable epileps …
In 2015, germline mutations in PPP2R1A were found to cause neurodevelopmental disorders (NDDs). To date, fewer than 50 cases o …
[ARX--one gene--many phenotypes].
Lisik M, Sieroń AL. Lisik M, et al. Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Neurol Neurochir Pol. 2008. PMID: 18975239 Review. Polish.
The most common mutation in the ARX gene is c. 428_451dup24, duplication of 24 bp in exon 2 of the gene, causing elongation of the second alanine tract (polyA12_II). Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD- …
The most common mutation in the ARX gene is c. 428_451dup24, duplication of 24 bp in exon 2 of the gene, causing elongation of the second al …
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L. Zombor M, et al. J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1. J Appl Genet. 2019. PMID: 30706430 Review.
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. …
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One …
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. Trivisano M, et al. Seizure. 2022 Oct;101:211-217. doi: 10.1016/j.seizure.2022.09.002. Epub 2022 Sep 3. Seizure. 2022. PMID: 36087421 Free article. Review.
PURPOSE: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperacti …
PURPOSE: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental di …
28 results