Literature DB >> 3334205

Megalencephaly: types, clinical syndromes, and management.

W DeMyer1.   

Abstract

The differential diagnosis of megalencephaly poses a challenge to the clinician. The two major categories, metabolic and anatomic, include a number of conditions, many of them rare. This article provides a systematic approach to the patient with megalencephaly.

Entities:  

Mesh：

Year:  1986        PMID： 3334205     DOI： 10.1016/0887-8994(86)90072-x

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  13 in total

1.  Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease.

Authors:  P J Tuite; J P Provias; A E Lang
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-11       Impact factor: 10.154

Review 2.  Malformations of cortical development: clinical features and genetic causes.

Authors:  Renzo Guerrini; William B Dobyns
Journal:  Lancet Neurol       Date:  2014-06-02       Impact factor: 44.182

3.  Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain.

Authors:  L R Donahue; S A Cook; K R Johnson; R T Bronson; M T Davisson
Journal:  Mamm Genome       Date:  1996-12       Impact factor: 2.957

Review 4.  Genetic Basis of Brain Malformations.

Authors:  Elena Parrini; Valerio Conti; William B Dobyns; Renzo Guerrini
Journal:  Mol Syndromol       Date:  2016-08-27

5.  Correlation between 2D and 3D Fetal Brain MRI Biometry and Neurodevelopmental Outcomes in Fetuses with Suspected Microcephaly and Macrocephaly.

Authors:  S Fried; M Gafner; D Jeddah; N Gosher; D Hoffman; R Ber; A Mayer; E Katorza
Journal:  AJNR Am J Neuroradiol       Date:  2021-08-12       Impact factor: 4.966

6.  Clinical features of macrocephaly at birth in Korea.

Authors:  Goun Jeong; Minkyun Kim; Byoung Hee Han
Journal:  Korean J Pediatr       Date:  2014-02-24

Review 7.  A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.

Authors:  Piero Pavone; Andrea Domenico Praticò; Renata Rizzo; Giovanni Corsello; Martino Ruggieri; Enrico Parano; Raffaele Falsaperla
Journal:  Medicine (Baltimore)       Date:  2017-06       Impact factor: 1.889

Review 8.  From microcephaly to megalencephaly: determinants of brain size.

Authors:  Filomena Pirozzi; Branden Nelson; Ghayda Mirzaa
Journal:  Dialogues Clin Neurosci       Date:  2018-12       Impact factor: 5.986

9.  Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome.

Authors:  Sabrina Oishi; Danyon Harkins; Nyoman D Kurniawan; Maria Kasherman; Lachlan Harris; Oressia Zalucki; Richard M Gronostajski; Thomas H J Burne; Michael Piper
Journal:  EBioMedicine       Date:  2018-11-29       Impact factor: 8.143

Review 10.  Definitions and classification of malformations of cortical development: practical guidelines.

Authors:  Mariasavina Severino; Ana Filipa Geraldo; Norbert Utz; Domenico Tortora; Ivana Pogledic; Wlodzimierz Klonowski; Fabio Triulzi; Filippo Arrigoni; Kshitij Mankad; Richard J Leventer; Grazia M S Mancini; James A Barkovich; Maarten H Lequin; Andrea Rossi
Journal:  Brain       Date:  2020-10-01       Impact factor: 13.501
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