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JournalISSN: 0174-304X

Neuropediatrics 

Thieme Medical Publishers (Germany)
About: Neuropediatrics is an academic journal published by Thieme Medical Publishers (Germany). The journal publishes majorly in the area(s): Epilepsy & Medicine. It has an ISSN identifier of 0174-304X. Over the lifetime, 3521 publications have been published receiving 68796 citations. The journal is also known as: Neuropediatrics (Stuttgart. Print).


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TL;DR: The use of this classification system will help both clinicians and researchers to understand and think about these disorders and their causes better and it is hoped that this improved understanding will lead to further refinements in classification, to advances in knowledge and, ultimately, to improvements in therapy.
Abstract: Malformations of the cerebral cortex are being recognized more frequently as a cause of epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a standard nomenclature and classification system of these malformations, based upon state-of-the art knowledge derived from genetics, embryology, imaging, and pathology, has not been devised. In this manuscript, we propose such a classification system. Moreover, we have constructed the system such that both the framework and the classifications themselves are flexible and can be adapted as our knowledge of the embryology, genetics, imaging, and pathology of these disorders advances. We believe that the use of this classification system will help both clinicians and researchers to understand and think about these disorders and their causes better. In turn, we hope that this improved understanding will lead to further refinements in classification, to advances in our knowledge and, ultimately, to improvements in therapy.

372 citations

Journal ArticleDOI
TL;DR: The different types of neuronal migration disorders are described and illustrated and the genes responsible for several of the lissencephaly syndromes have been mapped.
Abstract: Neuronal migration disorders are a group of malformations of the brain which primarily affect development of the cerebral cortex. The best known of these is lissencephaly (smooth brain). Most types result from incomplete neuronal migration to the cortex during the third and fourth months of gestation. In this review, we describe and illustrate the different types of neuronal migration disorders. We also review the many different genetic syndromes associated with neuronal migration disorders. Over 25 syndromes with lissencephaly or other neuronal migration disorders have been described. Among them are syndromes with several different patterns of inheritance including chromosomal or new mutation autosomal dominant, autosomal recessive, X-linked and unknown. Genetic counseling thus differs greatly between syndromes. The genes responsible for several of the lissencephaly syndromes have been mapped. X-linked lissencephaly has tentatively been mapped to chromosome Xq22 based on observation of a single X-autosomal translocation in a girl. Both Miller-Dieker syndrome and isolated lissencephaly sequence (in many patients) were mapped to chromosome 17p13.3 by detection of deletions and other structural chromosome rearrangements. Fukuyama congenital muscular dystrophy was mapped to chromosome 9q31-33 by homozygosity mapping.

314 citations

Journal ArticleDOI
TL;DR: With knowledge of age-dependent head circumference-to-brain volume relationship, head circumference can be an accurate, rapid, and inexpensive indication of normalcy of brain size and growth in a clinical setting.
Abstract: Objective To quantify the relationship between brain volume and head circumference from early childhood to adulthood, and quantify how this relationship changes with age. Methods Whole-brain volume and head circumference measures were obtained from MR images of 76 healthy normal males aged 1.7 to 42 years. Results Across early childhood, brain volume and head circumference both increase, but from adolescence onward brain volume decreases while head circumference does not. Because of such changing relationships between brain volume and head circumference with age, a given head circumference was associated with a wide range of brain volumes. However, when grouped appropriately by age, head circumference was shown to accurately predict brain volume. Head circumference was an excellent prediction of brain volume in 1.7 to 6 years old children (r = 0.93), but only an adequate predictor in 7 to 42 year olds. Conclusions To use head circumference as an accurate indication of abnormal brain volume in the clinic or research setting, the patient's age must be taken into account. With knowledge of age-dependent head circumference-to-brain volume relationship, head circumference (particularly in young children) can be an accurate, rapid, and inexpensive indication of normalcy of brain size and growth in a clinical setting.

311 citations

Performance
Metrics
No. of papers from the Journal in previous years
YearPapers
202322
2022125
2021113
202077
201988
201875