Table 2.

Clinical Features of Individuals with De Novo DNM1 Mutations

Trio	LGSkj	ISg	LGSaix	NLES16	NLES7
Mutationa	c.529G>C (p.Ala177Pro)	c.618G>C (p.Lys206Asn)	c.1076G>C (p.Gly359Ala)	c.709C>T (p.Arg237Trp)	c.194C>A (p.Thr65Asn)
Gender, age	F, 15 years	M, 8 years	M, 6 years	F, 13 years	M, 6 years
Exam at birth	normal	normal	normal	normal	normal
Development prior to epilepsy onset	probably normal (lost skills between 9 and 11 months)	head control 2–3 months, at 6 months some delay noted	normal	all milestones delayed	all milestones delayed
Seizure onset	7 months	6 months	2 months	12 months	13 months
Seizure type at onset	epileptic spasms	epileptic spasms	epileptic spasms	epileptic spasms	epileptic spasms
Other seizure types	atypical absences with eyelid fluttering, drop attacks, generalized tonic clonic seizures	atonic and tonic seizures	none	myoclonic, atypical absences, tonic, focal dyscognitive seizures, generalized tonic clonic seizures, obtundation status	atypical absences, tonic, focal dyscognitive seizures, obtundation status
Antiepileptic drug response	therapy resistant, longer periods of seizure freedom on vigabatrin and valproic acid	therapy resistant, some response to ketogenic diet	seizure free on ketogenic diet since age 3.5 years	therapy resistant	therapy resistant, no effect of ketogenic diet
Seizure outcome	seizure free between 3 and 8 years, then relapse	on-going frequent seizures	seizure free on ketogenic, off antiepileptic drugs	ongoing frequent seizures	ongoing frequent seizures
EEG at onset	slow background, multifocal discharges	hypsarrhythmia	high voltage bilateral slow spike-wave discharges	modified hypsarrhythmia	hypsarrhythmia
Course of EEG	slow background, slow generalized spike-wave discharges and multifocal (poly)spikes	slow background, left temporal slowing, slow generalized spike-wave discharges, diffuse (poly)spikes	not available	slow background, diffuse slow spike-wave discharges, sharp waves-slow waves; (poly)spike waves; paroxysmal fast activity	slow background, diffusemultifocal sharp waves and sharp waves-slow waves; paroxysmal fast activity
Neurological examination	mild diffuse hypotonia, mild ataxia with wide based gait, mild tremor	general hypotonia	general hypotonia	axial hypotonia, secondary microcephaly	axial hypotonia
Development at last follow up	severe intellectual disability; no speech; autism spectrum disorder, behavioral problems with self- injurious behavior	severe intellectual disability; no speech; does not walk	severe intellectual disability; no speech; does not walk; behavioral problems with self-injurious behavior	profound intellectual disability; no speech; no visual fixation; does not sit or walk	profound intellectual disability; no speech; no visual fixation; does not sit or walk
MRI	normal	normal	normal	generalized cerebral atrophy	generalized cerebral atrophy

^aAnnotated based on NCBI IDs: NM_004408.3 and NP_004399.2.