Table 1.

Mutations in LNPK Cause Various Phenotypes, Including Corpus Callosum Hypoplasia, Hypotonia, and Epilepsy

	Individual
	A-III-1	A-III-2	B-III-2
Genomic mutation	chr2: 176804365GT>G (hg19a)	chr2: 176804365GT>G (hg19a)	chr2: 176804341G>A (hg19a)
cDNA mutation	c.726delA	c.726delA	c.751C>T
Protein variant	p.Pro243LeufsTer2	p.Pro243LeufsTer2	p.Arg251Ter
Gender	male	male	female
Origin	Egypt	Egypt	Pakistan
Consanguinity	first cousin	first cousin	first cousin
Age at diagnosis	15 years	7 years, 4 months	14 months
Psychomotor Development
Gross motor skills	delayed	delayed	significantly delayed
Fine motor skills	delayed	delayed	significantly delayed
Language skills	absent	delayed	significantly delayed
Social skills	delayed	delayed	significantly delayed
Regression	progressive	stationary	progressive (bedridden)
Neurological Findings
Higher cognitive functions	severe intellectual disability, no speech, autistic features, very limited social interaction, hyperactivity, inattention, dementia	intellectual disability, a few unclear words, mild autistic features, hyperactive, inattention, minimal aggressiveness	vegetative state
Extrapyramidal symptoms	rigidity, drooling	no data	rigidity
Cerebellar deficits	no	no	bedridden
Motor deficits	hypertonia, only crawling	ambulatory	flaccid
Muscle tone	hypotonia with rigidity	mild hypotonia	flaccid
Reflexes	present	present	flaccid
Sensory	normal	normal	not possible
Gait	incapable	wide based	ataxia
Seizures
Age of onset	2 years	2 years	1 year
Type(s)	myoclonic, tonic, and extension spasms	myoclonic	generalized tonic clonic
Most frequent type	myoclonic	myoclonic	generalized tonic clonic
Frequency	every several days	controlled	unknown
Treatment	valproate, levetiracetum, clonazepam	valproate, levetiracetum	valporate, carbamazepine
MRI Findings
Corpus callosum	hypoplasia	hypoplasia	hypoplasia
Cerebellum	normal	mild vermian hypoplasia	atrophy

^aUCSC Genome Browser hg19.