Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
BACKGROUND
Recently, de novo loss- or gain-of-function mutations in the KCNA2 gene; have been described in individuals with epileptic encephalopathy, ataxia or intellectual disability.


METHODS
In this report, we describe a further case of KCNA2-early-onset epileptic encephalopathy. The patient presented since birth with intractable seizures, progressive microcephaly, developmental delay, and progressive brain atrophy. Whole-exome sequencing showed a novel de novo mutation in the KCNA2 gene: c.1120A > G (p.Thr374Ala).


CONCLUSIONS
This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy.
Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Khaled
K
Hundallah
Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Asma'a
A
Alenizi
Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Amal
A
AlHashem
Division of Pediatric Neurology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address: btabarki@hotmail.com.
Brahim
B
Tabarki
D001921:Brain / Q000000981:diagnostic imaging* / Q000503:physiopathology; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D002547:Cerebral Palsy / Q000503:physiopathology; D002658:Developmental Disabilities / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051663:Kv1.2 Potassium Channel / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype
C496969:KCNA2 protein, human; D051663:Kv1.2 Potassium Channel
Epileptic encephalopathy; KCNA2