A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation

Noora Ebrahim AlHadi; Hessa Mohammed Albuainain; Raafat Hammad Jadah

doi:10.12659/AJCR.951892

28 April 2026 : Case report Bahrain

A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation

Rare disease

Noora Ebrahim AlHadi

^{ABCDEFG 1*}, Hessa Mohammed Albuainain^{ACDF 1}, Raafat Hammad Jadah^{ACDF 2}

DOI: 10.12659/AJCR.951892

Am J Case Rep 2026; 27:e951892

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Figure 3 Whole-exome sequencing report from CENTOGENE GmbH (Rostock, Germany) illustrating the detection of a heterozygous KCNT1 variant, NM_020822.2: c.2807A>G (p.Asp936Gly), using next-generation sequencing (NGS) technology. The figure shows the summary of sequence variants, zygosity, parameters for in silico predictions, and interpretation of variants correlating KCNT1 with developmental and epileptic encephalopathy type 14 (DEE14).

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A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation

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