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Developmental and epileptic encephalopathy 106(DEE106)

MedGen UID:
1823985
Concept ID:
C5774212
Disease or Syndrome
Synonym: DEE106
 
Gene (location): UFSP2 (4q35.1)
 
Monarch Initiative: MONDO:0031052
OMIM®: 620028

Definition

Developmental and epileptic encephalopathy-106 (DEE106) is an autosomal recessive disorder characterized by the onset of various types of frequent, often refractory, seizures within the first year of life. Affected individuals demonstrate profound global developmental delay with limited ability to move and severely impaired intellectual development with absent speech. Nonspecific brain abnormalities may be observed on MRI (Ni et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Limb hypertonia
MedGen UID:
333083
Concept ID:
C1838391
Finding
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Tonic seizure
MedGen UID:
82855
Concept ID:
C0270844
Disease or Syndrome
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
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.
Focal clonic seizure
MedGen UID:
155749
Concept ID:
C0752323
Disease or Syndrome
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Esodeviation
MedGen UID:
1641033
Concept ID:
C4551734
Disease or Syndrome
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.

Professional guidelines

PubMed

Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Recent clinical studies

Etiology

Whitney R, Choi E, Jones KC
Seizure 2023 Mar;106:8-13. Epub 2023 Jan 23 doi: 10.1016/j.seizure.2023.01.014. PMID: 36701889
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
Honda R, Baba H, Adachi K, Koshimoto R, Ono T, Toda K, Tanaka S, Baba S, Yamasaki K, Yatsuhashi H
Epilepsy Behav 2021 Apr;117:107799. Epub 2021 Feb 18 doi: 10.1016/j.yebeh.2021.107799. PMID: 33610103
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A
Pediatr Neurol 2020 Aug;109:56-62. Epub 2020 Mar 11 doi: 10.1016/j.pediatrneurol.2020.03.005. PMID: 32387008Free PMC Article
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Diagnosis

Whitney R, Choi E, Jones KC
Seizure 2023 Mar;106:8-13. Epub 2023 Jan 23 doi: 10.1016/j.seizure.2023.01.014. PMID: 36701889
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I
Am J Hum Genet 2020 Oct 1;107(4):683-697. Epub 2020 Aug 26 doi: 10.1016/j.ajhg.2020.08.003. PMID: 32853554Free PMC Article
Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A
Pediatr Neurol 2020 Aug;109:56-62. Epub 2020 Mar 11 doi: 10.1016/j.pediatrneurol.2020.03.005. PMID: 32387008Free PMC Article
Wong LC, Singh S, Wang HP, Hsu CJ, Hu SC, Lee WT
Int J Mol Sci 2019 Aug 26;20(17) doi: 10.3390/ijms20174176. PMID: 31454984Free PMC Article
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article

Therapy

Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A
Seizure 2023 Mar;106:58-67. Epub 2023 Feb 1 doi: 10.1016/j.seizure.2023.01.020. PMID: 36774775
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
Vasquez A, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman K, Clark J, Farias-Moeller R, Gaillard WD, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Kapur K, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG)
Neurology 2020 Nov 10;95(19):e2683-e2696. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010828. PMID: 32913024Free PMC Article
Deshmukh U, Adams J, Macklin EA, Dhillon R, McCarthy KD, Dworetzky B, Klein A, Holmes LB
Neurotoxicol Teratol 2016 Mar-Apr;54:5-14. Epub 2016 Jan 12 doi: 10.1016/j.ntt.2016.01.001. PMID: 26791321Free PMC Article
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869

Prognosis

Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A
Seizure 2023 Mar;106:58-67. Epub 2023 Feb 1 doi: 10.1016/j.seizure.2023.01.020. PMID: 36774775
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S
Am J Hum Genet 2021 Jul 1;108(7):1330-1341. Epub 2021 Jun 7 doi: 10.1016/j.ajhg.2021.05.007. PMID: 34102099Free PMC Article
Vasquez A, Gaínza-Lein M, Abend NS, Amengual-Gual M, Anderson A, Arya R, Brenton JN, Carpenter JL, Chapman K, Clark J, Farias-Moeller R, Gaillard WD, Glauser T, Goldstein JL, Goodkin HP, Guerriero RM, Kapur K, Lai YC, McDonough TL, Mikati MA, Morgan LA, Novotny EJ, Ostendorf AP, Payne ET, Peariso K, Piantino J, Riviello JJ, Sannagowdara K, Tasker RC, Tchapyjnikov D, Topjian A, Wainwright MS, Wilfong A, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG)
Neurology 2020 Nov 10;95(19):e2683-e2696. Epub 2020 Sep 10 doi: 10.1212/WNL.0000000000010828. PMID: 32913024Free PMC Article
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article
Matsumoto A, Miyazaki S, Hayakawa C, Komori T, Nakamura M, Oshio A
Epilepsy Res 2009 Oct;86(2-3):175-82. Epub 2009 Aug 25 doi: 10.1016/j.eplepsyres.2009.06.005. PMID: 19709858

Clinical prediction guides

Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P
Hum Mol Genet 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. PMID: 37552066Free PMC Article
Knupp KG, Scheffer IE, Ceulemans B, Sullivan J, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Agarwal A, Lock M, Dai D, Farfel GM, Galer BS, Gammaitoni AR, Polega S, Davis R, Gil-Nagel A
Epilepsia 2023 Jan;64(1):139-151. Epub 2022 Nov 9 doi: 10.1111/epi.17431. PMID: 36196777Free PMC Article
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I
Am J Hum Genet 2020 Oct 1;107(4):683-697. Epub 2020 Aug 26 doi: 10.1016/j.ajhg.2020.08.003. PMID: 32853554Free PMC Article
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N
Nat Commun 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. PMID: 31175295Free PMC Article
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group
Brain 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. PMID: 30544257Free PMC Article

Recent systematic reviews

Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880Free PMC Article
Arfaie S, Amin P, Kwan ATH, Solgi A, Sarabi A, Hakak-Zargar B, Brunette-Clément T, Pushenko D, Mir-Moghtadaei K, Mashayekhi MS, Mofatteh M, Honarvar F, Ren LY, Noiseux-Lush C, Azizi Z, Pearl PL, Baldeweg T, Weil AG, Fallah A
Seizure 2023 Mar;106:58-67. Epub 2023 Feb 1 doi: 10.1016/j.seizure.2023.01.020. PMID: 36774775
Banach R, Boskovic R, Einarson T, Koren G
Drug Saf 2010 Jan 1;33(1):73-9. doi: 10.2165/11317640-000000000-00000. PMID: 20000869

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