Table 1.

Summary of male patients with ALG13 mutation

	Age onset epilepsy	Sex	ALG13 variant	Inheritance	Protein change	Clinical findings	MRI	Glycosylation studies	Response to treatment
This report	4.5 months	M	c.320 A>G	De novo	p.(Asn107Ser)	Developmental delay, infantile spasms/polymorphic seizures, hypotonia, dysmorphic features, delayed visual maturation, choreatiform movements	Hypoplasia corpus callosum and mild delay myelination	Transferrin IEF normal. Mass spectrometry lack of one glycan (~6–8% ref: <4%)	Spasms initially responded to prednisolone. No effect of vigabatrin, nitrazepam, and valproic acid. Response to levetiracetam
Timal et al. (2012)	Not reported	M	c.280A>G Hemizygous	De novo	p.(Lys94Glu)	Seizures, microcephaly, delayed visual maturation, extrapyramidal/pyramidal signs, hepatomegaly, bleeding tendency, swelling hand/feet/eyelids	Not reported	N-glycosylation defect type I (ALG13-CDG)	Refractory polymorphic epilepsy, died at age of 1 year
Bissar-Tadmouri et al. (2014)	Not applicable	M (n = 4)	c.3221A>G Hemizygous	Maternal inheritance	p.(Tyr1074Cys)	Intellectual disability	Normal	Not tested	Not applicable
Hino-Fukuyo et al. (2015)	5 months	M	c.880C>T Hemizygous	Maternal inheritance	p.(Pro294Ser)	Developmental delay, infantile spasms/seizures, delayed visual maturation	Anomaly corpus callosum	Not reported	Spasms responded to pyridoxine and ACTH, followed by tonic/myoclonic seizures responding to AED
Møller et al. (2016)	Not reported	M	c.1641A>T	Maternal inheritance	p.(Gln547His)	Lennox-Gastaut syndrome	Not reported	Not reported	Not reported