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Developmental and epileptic encephalopathy, 30(DEE30)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: DEE30; Epileptic encephalopathy, early infantile, 30
Gene (location): SIK1 (21q22.3)
Monarch Initiative: MONDO:0014595
OMIM®: 616341


Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by Hansen et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Feeding difficulties
MedGen UID:
Concept ID:
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Stereotypic movement disorder
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
MedGen UID:
Concept ID:
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Bilateral tonic-clonic seizure
MedGen UID:
Concept ID:
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Epileptic encephalopathy
MedGen UID:
Concept ID:
Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Global developmental delay
MedGen UID:
Concept ID:
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
MedGen UID:
Concept ID:
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Absent speech
MedGen UID:
Concept ID:
Complete lack of development of speech and language abilities.
Generalized myoclonic seizure
MedGen UID:
Concept ID:
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Respiratory distress
MedGen UID:
Concept ID:
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

Professional guidelines


Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium, de Bellescize J, Villard L, De Saint Martin A, Milh M
Epilepsia 2022 Oct;63(10):2519-2533. Epub 2022 Aug 13 doi: 10.1111/epi.17336. PMID: 35718920Free PMC Article
McTague A, Martland T, Appleton R
Cochrane Database Syst Rev 2018 Jan 10;1(1):CD001905. doi: 10.1002/14651858.CD001905.pub3. PMID: 29320603Free PMC Article
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article

Recent clinical studies


Xu W, Zhang W, Cui L, Shi L, Zhu B, Lyu TJ, Ma W
Metab Brain Dis 2022 Apr;37(4):1207-1219. Epub 2022 Mar 10 doi: 10.1007/s11011-022-00943-4. PMID: 35267137

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