Table 1 Epileptic Individuals with no periventricular nodular heterotopia arising from FLNA variants.

	Case 1	Case 2^a	Case 3	Our Case
Age at onset	9 months	5 months	Unknown	9 months
Sex	Female	Male	Female	Male
Mutation	c.5324C>T p.Leu1775Pro de novo	c.4579G>A p.Asp1527Asn maternal inherited	c.2662G>T p.Glu888* heterozygous	c.4804G>A p.Gly1602Ser^b de novo hemizygous
Phenotype	Lennox-Gastaut syndrome	Epileptic encephalopathies, infantile	Epilepsy (generalized or focal)	Cryptogenic West syndrome
Allele frequency (number of homozygotes, hemizygotes) in gnomAD	0 (0,0)	8.83e−5 (0,2)	0 (0,0)	0 (0,0)
SIFT	0.22	0.21	-	0
Polyphen2	0.905	0.452	-	0.996
CADD	22.9	23.4	41	27.0
Brain imaging	Parietal venous angioma	Normal	Not available	Normal
Source	Allen et al.¹⁷	Wei et al.¹⁸	DiFrancesco et al.¹⁹	This report

^aCase 2, from a paper written in Chinese, is a boy diagnosed with moderate infantile epileptic encephalopathy with an onset age of 5 months. Wei et al. created a customized kit covering all exonic regions associated with 4000 monogenic genetic diseases in the OMIM databases, performed NGS using the Illumina platform, and detected an FLNA heterozygous missense variant. They described that the FLNA variant is likely pathogenic in association with PVNH1, but no abnormality was seen in brain MRI.
^bIn gnomAD, there is a missense variant (allele frequency: 1.11e−5 and number of hemizygotes: 1) that affects the same amino acid but leads to a different amino acid substitution (p.Gly1602Arg). In silico scores of that variant are SIFT: 0, Polyphen: 0.999 and CADD: 28.1.

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