Brain Imaging and Genetic Risk in the Pediatric Population, Part 2

Longo, Maria Gabriela Figueiró; Félix, T; Ashton‐Prolla, Patrícia; Vedolin, Leonardo

doi:10.1016/j.nic.2014.09.003

Cited by 3 publications

(2 citation statements)

References 132 publications

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“…44 Muchos estudios en los últimos 20 años y soportados por el grupo de la Dra. Novak en Australia [22][23][24][25][26][27][28][29][30][31][32][33] confirman que el 20-25% de casos de parálisis cerebral moderada o severa se asocian con malformación congénitas del sistema nervioso central. Toda esta profundización de la etiología de la parálisis cerebral sugiere que el desarrollo temprano de anomalías juega un papel importante y significativo en la etiología de la parálisis cerebral.…”

Section: Introductionunclassified

“…Toda esta profundización de la etiología de la parálisis cerebral sugiere que el desarrollo temprano de anomalías juega un papel importante y significativo en la etiología de la parálisis cerebral. Basados en estos conceptos se han descrito e identificado una cantidad de causas y trastornos de etiología encuentra la RNM cerebral, que resulta de gran ayuda además de aumentar la certeza diagnostica, como herramienta para poder dar un mayor acercamiento del pronóstico de funcionalidad motora, así como el tipo de alteración motora que podrá desarrollar el niño de alto riesgo neurológico 28,29 . El problema aparece cuando nos enfrentamos a un niño en el que se tiene sospecha de EHI con RNM cerebral normal, como ocurrió en el estudio de Breda C. Hayes del 2015 13 , que luego de revisar 88 pacientes con antecedente de EHI, en el 43% de los casos se encontró RNM cerebral normal de los cuales, se asegura que no van a desarrollar PC, pero si pueden tener retraso en el neurodesarrollo, o alguna alteración cognitiva, en el aprendizaje o comportamental.…”

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Asociaciones genéticas en la parálisis cerebral; un campo aún en estudio

Arroyo¹,

Franco²,

Valencia³

2016

Rev Col Med Fis Reh

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Section: Introductionunclassified

Asociaciones genéticas en la parálisis cerebral; un campo aún en estudio

Arroyo¹,

Franco²,

Valencia³

2016

Rev Col Med Fis Reh

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Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain

Razek

Castillo

2016

Journal of Computer Assisted Tomography

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We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts.

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Diagnostic Testing in Epilepsy Genetics Clinical Practice

Tumienė¹,

Utkus²,

Kučinskas³

et al. 2018

Seizures

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Changing landscape of epilepsy genetic testing gives vast opportunities to both patients and clinicians. Significance of precise genetic diagnosis in patients affected by epilepsy cannot be overestimated: it not only gives the opportunities of personalized therapeutical approaches but is also associated with multiple additional benefits for patients, their families, and society. Although the burden of Mendelian and chromosomal diseases amenable to current diagnostic testing measures is unknown, recently, we have comprised a database of more than 880 human genes associated with monogenic diseases involving epilepsy or seizures, EpiGene database (http://www.kimg.eu/en/tools/epigene-database). Besides, more than 50 chromosomal syndromes are related to epilepsy or seizures. Currently, there are no recommendations or guidelines for genetic testing in epilepsy patients addressing specificities of next-generation sequencing technologies. However, as every genetic testing modality has its own characteristics of specificity/sensitivity, range of clinical indications, and possible bioethical and psychosocial implications, genetic testing in epilepsies must be properly selected and applied along with proper clinical genetics/genetic counseling services. In this chapter, an overview of genetic testing modalities and workflows taking into account genetic architecture of epilepsies is given, and practical aspects of genetic testing in epilepsies, including advantages/limitations and clinical utility of tests, are discussed.

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Brain Imaging and Genetic Risk in the Pediatric Population, Part 2

Cited by 3 publications

References 132 publications

Asociaciones genéticas en la parálisis cerebral; un campo aún en estudio

Asociaciones genéticas en la parálisis cerebral; un campo aún en estudio

Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain

Diagnostic Testing in Epilepsy Genetics Clinical Practice

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