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Article

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

American journal of medical genetics. Part A - 1 Mar 2025

Cebeci Dilek, Cavdarli Busranur, Ozbudak Pinar, Arhan Ebru, Gucuyener Kivilcim, Demir Ercan

Abstract excerpt

In this paper, we report the treatment course, magnetic resonance imaging (MRI), and electroencephalography (EEG) findings of a two-month-old girl with KCNQ2 epileptic encephalopathy caused by a de novo variant. The patient started having seizures 2 days postnatally. Despite treatment with phenobarbital, phenytoin, levetiracetam, topiramate, clonazepam, vigabatrin, clobazam, and pyridoxine, she continued to have...

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Source

Identifiers

PMID: 39404469
DOI: 10.1002/ajmg.a.63909

Genes

KCNQ2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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