Literature DB >> 9706619

Microlissencephaly: a heterogeneous malformation of cortical development.

A J Barkovich1, D M Ferriero, R M Barr, P Gressens, W B Dobyns, C L Truwit, P Evrard.   

Abstract

We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome.

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Year:  1998        PMID: 9706619     DOI: 10.1055/s-2007-973545

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  14 in total

1.  The microcephaly-capillary malformation syndrome.

Authors:  Ghayda M Mirzaa; Alex R Paciorkowski; Christopher D Smyser; Marcia C Willing; Anne C Lind; William B Dobyns
Journal:  Am J Med Genet A       Date:  2011-08-03       Impact factor: 2.802

2.  Lissencephaly: Expanded imaging and clinical classification.

Authors:  Nataliya Di Donato; Sara Chiari; Ghayda M Mirzaa; Kimberly Aldinger; Elena Parrini; Carissa Olds; A James Barkovich; Renzo Guerrini; William B Dobyns
Journal:  Am J Med Genet A       Date:  2017-04-25       Impact factor: 2.802

3.  Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

Authors:  Y Adachi; A Poduri; A Kawaguch; G Yoon; M A Salih; F Yamashita; C A Walsh; A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2011-03-31       Impact factor: 3.825

Review 4.  Neurodevelopmental liabilities in epilepsy.

Authors:  Antonio Gil-Nagel
Journal:  Neurotox Res       Date:  2003       Impact factor: 3.911

Review 5.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501

6.  Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

Authors:  Stephen Ashwal; David Michelson; Lauren Plawner; William B Dobyns
Journal:  Neurology       Date:  2009-09-15       Impact factor: 9.910

7.  Disorders of Microtubule Function in Neurons: Imaging Correlates.

Authors:  C A Mutch; A Poduri; M Sahin; B Barry; C A Walsh; A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2015-11-12       Impact factor: 3.825

8.  Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

Authors:  Shereen Georges Ghosh; Lu Wang; Martin W Breuss; Joshua D Green; Valentina Stanley; Xiaoxu Yang; Danica Ross; Bryan J Traynor; Amal M Alhashem; Matloob Azam; Laila Selim; Laila Bastaki; Hanan I Elbastawisy; Samia Temtamy; Maha Zaki; Joseph G Gleeson
Journal:  J Med Genet       Date:  2019-10-05       Impact factor: 6.318

Review 9.  [Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex].

Authors:  B Ertl-Wagner; C Rummeny; M F Reiser
Journal:  Radiologe       Date:  2003-11       Impact factor: 0.635

10.  Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients.

Authors:  Yuko Adachi; Ganeshwaran Mochida; Christopher Walsh; James Barkovich
Journal:  Neuropediatrics       Date:  2013-11-14       Impact factor: 1.947

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