Beyond hypoxic–ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies

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Neonatal encephalopathies are diverse neurological disorders that can mimic hypoxic-ischemic encephalopathy (HIE) but have various genetic and metabolic causes.
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Timely identification of non-HIE causes of neonatal encephalopathy is crucial for initiating targeted therapies and providing accurate family counseling.
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Next-generation sequencing, including whole-exome and whole-genome sequencing, is essential for diagnosing genetic neonatal encephalopathies.
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Genetic neonatal encephalopathies can be classified into five groups based on their clinical and diagnostic features, including channelopathies and metabolic disorders.
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Early identification of genetic variants can enable targeted treatment and improve genetic counseling for affected families.

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