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Related Experiment Video

Updated: Jul 23, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Neuroectodermal Diseases: A Comparative Case Report Study.

John Paul M Cruz¹, Michelle Sy¹

¹Neurology, Quirino Memorial Medical Center, Quezon City, PHL.

|July 17, 2023

Summary

This summary is machine-generated.

This study highlights two pediatric cases of rare neuroectodermal diseases, focusing on initial symptoms like seizures and skin changes. Early diagnosis is crucial for managing these complex neurological and skin disorders.

Area of Science:

Neurology
Dermatology
Genetics

Background:

Neuroectodermal diseases are rare disorders affecting the nervous system, skin, and eyes, often leading to underdiagnosis.
Pediatric cases frequently present with complex symptoms, challenging timely diagnosis.

Keywords:

developmental delay hemimegalencephaly mtor neurocutaneous disease pigmentary mosaicism ras seizure

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