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Developmental and epileptic encephalopathy 110(DEE110)

MedGen UID:
1824038
Concept ID:
C5774265
Disease or Syndrome
Synonym: DEE110
 
Gene (location): CACNA2D1 (7q21.11)
 
Monarch Initiative: MONDO:0859327
OMIM®: 620149

Definition

Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Bruxism
MedGen UID:
676
Concept ID:
C0006325
Mental or Behavioral Dysfunction
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Pain insensitivity
MedGen UID:
488855
Concept ID:
C0344307
Finding
Inability to perceive painful stimuli.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Intellectual disability, profound
MedGen UID:
892508
Concept ID:
C3161330
Mental or Behavioral Dysfunction
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Profound global developmental delay
MedGen UID:
766364
Concept ID:
C3553450
Disease or Syndrome
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Continuous spike and waves during slow sleep
MedGen UID:
812733
Concept ID:
C3806403
Finding
Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Focal impaired awareness hemiclonic seizure
MedGen UID:
1715469
Concept ID:
C5397806
Disease or Syndrome
A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Posterior plagiocephaly
MedGen UID:
892298
Concept ID:
C4021160
Anatomical Abnormality
Asymmetry of the posterior part of the skull.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Tented upper lip vermilion
MedGen UID:
326574
Concept ID:
C1839767
Finding
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Cerebral visual impairment
MedGen UID:
890568
Concept ID:
C4048268
Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.

Professional guidelines

PubMed

Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group
Dev Med Child Neurol 2022 Jun;64(6):780-788. Epub 2022 Jan 29 doi: 10.1111/dmcn.15153. PMID: 35092693Free PMC Article
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd
Epilepsia 2015 May;56(5):707-16. Epub 2015 Mar 25 doi: 10.1111/epi.12954. PMID: 25818041

Recent clinical studies

Etiology

Whitney R, Sharma S, Jones KC, RamachandranNair R
Seizure 2023 Aug;110:188-193. Epub 2023 Jul 2 doi: 10.1016/j.seizure.2023.07.002. PMID: 37413779
Sakakura K, Sonoda M, Mitsuhashi T, Kuroda N, Firestone E, O'Hara N, Iwaki H, Lee MH, Jeong JW, Rothermel R, Luat AF, Asano E
Neuroimage 2022 Sep;258:119342. Epub 2022 May 30 doi: 10.1016/j.neuroimage.2022.119342. PMID: 35654375Free PMC Article
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group
Dev Med Child Neurol 2022 Jun;64(6):780-788. Epub 2022 Jan 29 doi: 10.1111/dmcn.15153. PMID: 35092693Free PMC Article
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC
Epilepsy Behav 2021 Jan;114(Pt A):107562. Epub 2020 Nov 24 doi: 10.1016/j.yebeh.2020.107562. PMID: 33243681Free PMC Article
Crino PB
Nat Rev Neurol 2016 Jul;12(7):379-92. Epub 2016 Jun 24 doi: 10.1038/nrneurol.2016.81. PMID: 27340022

Diagnosis

Hill M, Iro M, Sadarangani M, Absoud M, Cantrell L, Chong K, Clark C, Easton A, Gray V, Kneen R, Lim M, Liu X, Pike M, Solomon T, Vincent A, Willis L, Yu LM, Pollard AJ; IgNiTE study team
BMJ Open 2023 Nov 9;13(11):e072134. doi: 10.1136/bmjopen-2023-072134. PMID: 37945292Free PMC Article
Lee S, Kim BR, Kim YO
Sci Prog 2022 Oct-Dec;105(4):368504221131233. doi: 10.1177/00368504221131233. PMID: 36217831Free PMC Article
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H
Ann Neurol 2022 Feb;91(2):225-237. Epub 2022 Jan 20 doi: 10.1002/ana.26293. PMID: 34954817Free PMC Article
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC
Epilepsy Behav 2021 Jan;114(Pt A):107562. Epub 2020 Nov 24 doi: 10.1016/j.yebeh.2020.107562. PMID: 33243681Free PMC Article
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898

Therapy

Hill M, Iro M, Sadarangani M, Absoud M, Cantrell L, Chong K, Clark C, Easton A, Gray V, Kneen R, Lim M, Liu X, Pike M, Solomon T, Vincent A, Willis L, Yu LM, Pollard AJ; IgNiTE study team
BMJ Open 2023 Nov 9;13(11):e072134. doi: 10.1136/bmjopen-2023-072134. PMID: 37945292Free PMC Article
Bensken WP, Vaca GF, Williams SM, Khan OI, Jobst BC, Stange KC, Sajatovic M, Koroukian SM
Seizure 2023 Aug;110:169-176. Epub 2023 Jun 28 doi: 10.1016/j.seizure.2023.06.021. PMID: 37393863Free PMC Article
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM; Irish Paediatric Neurology Group
Dev Med Child Neurol 2022 Jun;64(6):780-788. Epub 2022 Jan 29 doi: 10.1111/dmcn.15153. PMID: 35092693Free PMC Article
Montouris G, Aboumatar S, Burdette D, Kothare S, Kuzniecky R, Rosenfeld W, Chung S
Epilepsy Behav 2020 Sep;110:107146. Epub 2020 Jun 18 doi: 10.1016/j.yebeh.2020.107146. PMID: 32563898
Tiwari D, Peariso K, Gross C
Dev Dyn 2018 Jan;247(1):94-110. Epub 2017 Oct 4 doi: 10.1002/dvdy.24582. PMID: 28850760Free PMC Article

Prognosis

Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB
Am J Hum Genet 2023 Jan 5;110(1):120-145. Epub 2022 Dec 16 doi: 10.1016/j.ajhg.2022.11.011. PMID: 36528028Free PMC Article
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC
Epilepsy Behav 2021 Jan;114(Pt A):107562. Epub 2020 Nov 24 doi: 10.1016/j.yebeh.2020.107562. PMID: 33243681Free PMC Article
Devinsky O, Boyce D, Robbins M, Pressler M
Epilepsy Behav 2020 Sep;110:107174. Epub 2020 Jun 9 doi: 10.1016/j.yebeh.2020.107174. PMID: 32531727
Maynard LM, Leach JL, Horn PS, Spaeth CG, Mangano FT, Holland KD, Miles L, Faist R, Greiner HM
Epilepsy Res 2017 May;132:41-49. Epub 2017 Mar 6 doi: 10.1016/j.eplepsyres.2017.03.001. PMID: 28288357
Kumar A, Asano E, Chugani HT
Biomark Med 2011 Oct;5(5):577-84. doi: 10.2217/bmm.11.68. PMID: 22003906Free PMC Article

Clinical prediction guides

Hill M, Iro M, Sadarangani M, Absoud M, Cantrell L, Chong K, Clark C, Easton A, Gray V, Kneen R, Lim M, Liu X, Pike M, Solomon T, Vincent A, Willis L, Yu LM, Pollard AJ; IgNiTE study team
BMJ Open 2023 Nov 9;13(11):e072134. doi: 10.1136/bmjopen-2023-072134. PMID: 37945292Free PMC Article
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB
Am J Hum Genet 2023 Jan 5;110(1):120-145. Epub 2022 Dec 16 doi: 10.1016/j.ajhg.2022.11.011. PMID: 36528028Free PMC Article
Sakakura K, Sonoda M, Mitsuhashi T, Kuroda N, Firestone E, O'Hara N, Iwaki H, Lee MH, Jeong JW, Rothermel R, Luat AF, Asano E
Neuroimage 2022 Sep;258:119342. Epub 2022 May 30 doi: 10.1016/j.neuroimage.2022.119342. PMID: 35654375Free PMC Article
Casale M, Lemus HN, Young JJ, Marcuse LV, Yoo JY, Faktorovich S, Mueller B, Fields MC
Epilepsy Behav 2021 Jan;114(Pt A):107562. Epub 2020 Nov 24 doi: 10.1016/j.yebeh.2020.107562. PMID: 33243681Free PMC Article
Tiwari D, Peariso K, Gross C
Dev Dyn 2018 Jan;247(1):94-110. Epub 2017 Oct 4 doi: 10.1002/dvdy.24582. PMID: 28850760Free PMC Article

Recent systematic reviews

Freibauer AE, RamachandranNair R, Jain P, Jones KC, Whitney R
Seizure 2023 Aug;110:119-125. Epub 2023 Jun 20 doi: 10.1016/j.seizure.2023.06.017. PMID: 37352690
Rondão MBA, Hsu BRRHS, Centeno RS, de Aguiar PHP
Seizure 2023 Aug;110:58-68. Epub 2023 Jun 3 doi: 10.1016/j.seizure.2023.04.020. PMID: 37327751

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