613060.2

Country

Saudi Arabia

HPO Terms

Seizure; Motor delay; Delayed speech and language development; Hypotonia; Muscle weakness; Abnormality of movement; Microcephaly; Visual impairment

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Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000815.5:c.875C>T	2		Epilepsy, Idiopathic Generalized, Susceptibility to, 10

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Remarks

Patient is homozygous for the mutation. Idiopathic generalized epilepsy (EIG) and generalized epilepsy with febrile seizures plus (GEFS+) follows an autosomal dominant pattern but homozygous mutations have been noted in patients with EIG.

References

Monies et al. 2017