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Developmental and epileptic encephalopathy 109(DEE109)

MedGen UID:
1824036
Concept ID:
C5774263
Disease or Syndrome
Synonym: DEE109
 
Gene (location): FZR1 (19p13.3)
 
Monarch Initiative: MONDO:0859325
OMIM®: 620145

Definition

Developmental and epileptic encephalopathy-109 (DEE109) is characterized by the onset of various types of seizures in the first months or years of life. Affected individuals show developmental delay before and concurrent with the onset of seizures. Features include impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities (Manivannan et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Clinical features

From HPO
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
Intellectual disability, moderate
MedGen UID:
7680
Concept ID:
C0026351
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
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.
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Atonic seizure
MedGen UID:
78735
Concept ID:
C0270846
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Crouch gait
MedGen UID:
605441
Concept ID:
C0427143
Finding
A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Focal hemiclonic seizure
MedGen UID:
335477
Concept ID:
C1846620
Disease or Syndrome
A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized by 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.
Typical absence seizure
MedGen UID:
1790454
Concept ID:
C5551411
Disease or Syndrome
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.
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.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Professional guidelines

PubMed

Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G
Neuropediatrics 2021 Apr;52(2):109-122. Epub 2021 Feb 12 doi: 10.1055/s-0041-1722878. PMID: 33578439
Buono S, Zingale M, Città S, Mongelli V, Trubia G, Mascali G, Occhipinti P, Pettinato E, Ferri R, Gagliano C, Greco D
Res Dev Disabil 2021 Mar;110:103856. Epub 2021 Jan 9 doi: 10.1016/j.ridd.2021.103856. PMID: 33497856Free PMC Article

Recent clinical studies

Etiology

Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY
Am J Hum Genet 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. PMID: 35395208Free PMC Article
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G
Neuropediatrics 2021 Apr;52(2):109-122. Epub 2021 Feb 12 doi: 10.1055/s-0041-1722878. PMID: 33578439
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
Hirabayashi K, Uehara DT, Abe H, Ishii A, Moriyama K, Hirose S, Inazawa J
J Hum Genet 2019 Nov;64(11):1097-1106. Epub 2019 Aug 30 doi: 10.1038/s10038-019-0661-x. PMID: 31471553
Al-Zirqi I, Daltveit AK, Vangen S
Am J Obstet Gynecol 2018 Jul;219(1):109.e1-109.e8. Epub 2018 Apr 12 doi: 10.1016/j.ajog.2018.04.010. PMID: 29655964

Diagnosis

Alten B, Zhou Q, Shin OH, Esquivies L, Lin PY, White KI, Sun R, Chung WK, Monteggia LM, Brunger AT, Kavalali ET
Neuron 2021 Jan 6;109(1):59-72.e5. Epub 2020 Nov 3 doi: 10.1016/j.neuron.2020.10.012. PMID: 33147442Free PMC Article
Cabasson S, Van-Gils J, Villéga F, Abi-Warde MT, Barcia G, Lazaro L, Cancés C, Chelly J, Karsenty C, Rivera S, de Saint-Martin A, Trimouille A, Villard L, Pédespan JM
Eur J Paediatr Neurol 2020 Sep;28:214-220. Epub 2020 Jun 28 doi: 10.1016/j.ejpn.2020.06.002. PMID: 32694024
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
Hirabayashi K, Uehara DT, Abe H, Ishii A, Moriyama K, Hirose S, Inazawa J
J Hum Genet 2019 Nov;64(11):1097-1106. Epub 2019 Aug 30 doi: 10.1038/s10038-019-0661-x. PMID: 31471553
Al-Zirqi I, Daltveit AK, Vangen S
Am J Obstet Gynecol 2018 Jul;219(1):109.e1-109.e8. Epub 2018 Apr 12 doi: 10.1016/j.ajog.2018.04.010. PMID: 29655964

Therapy

Matsuura R, Hamano SI, Hirata Y, Takeda R, Takeuchi H, Koichihara R, Kikuchi K, Oka A
Seizure 2023 Jul;109:40-44. Epub 2023 May 16 doi: 10.1016/j.seizure.2023.05.012. PMID: 37207538
Kimizu T, Takahashi Y, Oboshi T, Horino A, Omatsu H, Koike T, Yoshitomi S, Yamaguchi T, Otani H, Ikeda H, Imai K, Shigematsu H
Epilepsy Behav 2020 Aug;109:107116. Epub 2020 May 6 doi: 10.1016/j.yebeh.2020.107116. PMID: 32388139
Salpekar J
Curr Opin Psychiatry 2018 Mar;31(2):109-115. doi: 10.1097/YCO.0000000000000392. PMID: 29227297
Partikian A, Mitchell WG
J Child Neurol 2010 Apr;25(4):423-8. Epub 2009 Sep 11 doi: 10.1177/0883073809341664. PMID: 19749181
Harbord MG
J Clin Neurosci 2000 May;7(3):213-6. doi: 10.1054/jocn.1999.0190. PMID: 10833618

Prognosis

Hagihara H, Shoji H, Hattori S, Sala G, Takamiya Y, Tanaka M, Ihara M, Shibutani M, Hatada I, Hori K, Hoshino M, Nakao A, Mori Y, Okabe S, Matsushita M, Urbach A, Katayama Y, Matsumoto A, Nakayama KI, Katori S, Sato T, Iwasato T, Nakamura H, Goshima Y, Raveau M, Tatsukawa T, Yamakawa K, Takahashi N, Kasai H, Inazawa J, Nobuhisa I, Kagawa T, Taga T, Darwish M, Nishizono H, Takao K, Sapkota K, Nakazawa K, Takagi T, Fujisawa H, Sugimura Y, Yamanishi K, Rajagopal L, Hannah ND, Meltzer HY, Yamamoto T, Wakatsuki S, Araki T, Tabuchi K, Numakawa T, Kunugi H, Huang FL, Hayata-Takano A, Hashimoto H, Tamada K, Takumi T, Kasahara T, Kato T, Graef IA, Crabtree GR, Asaoka N, Hatakama H, Kaneko S, Kohno T, Hattori M, Hoshiba Y, Miyake R, Obi-Nagata K, Hayashi-Takagi A, Becker LJ, Yalcin I, Hagino Y, Kotajima-Murakami H, Moriya Y, Ikeda K, Kim H, Kaang BK, Otabi H, Yoshida Y, Toyoda A, Komiyama NH, Grant SGN, Ida-Eto M, Narita M, Matsumoto KI, Okuda-Ashitaka E, Ohmori I, Shimada T, Yamagata K, Ageta H, Tsuchida K, Inokuchi K, Sassa T, Kihara A, Fukasawa M, Usuda N, Katano T, Tanaka T, Yoshihara Y, Igarashi M, Hayashi T, Ishikawa K, Yamamoto S, Nishimura N, Nakada K, Hirotsune S, Egawa K, Higashisaka K, Tsutsumi Y, Nishihara S, Sugo N, Yagi T, Ueno N, Yamamoto T, Kubo Y, Ohashi R, Shiina N, Shimizu K, Higo-Yamamoto S, Oishi K, Mori H, Furuse T, Tamura M, Shirakawa H, Sato DX, Inoue YU, Inoue T, Komine Y, Yamamori T, Sakimura K, Miyakawa T
Elife 2024 Mar 26;12 doi: 10.7554/eLife.89376. PMID: 38529532Free PMC Article
Matsuura R, Hamano SI, Hirata Y, Takeda R, Takeuchi H, Koichihara R, Kikuchi K, Oka A
Seizure 2023 Jul;109:40-44. Epub 2023 May 16 doi: 10.1016/j.seizure.2023.05.012. PMID: 37207538
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA
Am J Hum Genet 2022 Dec 1;109(12):2253-2269. Epub 2022 Nov 21 doi: 10.1016/j.ajhg.2022.11.002. PMID: 36413998Free PMC Article
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY
Am J Hum Genet 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. PMID: 35395208Free PMC Article
Uvebrant P
Acta Paediatr Scand Suppl 1988;345:1-100. doi: 10.1111/j.1651-2227.1988.tb14939.x. PMID: 3201989

Clinical prediction guides

Hagihara H, Shoji H, Hattori S, Sala G, Takamiya Y, Tanaka M, Ihara M, Shibutani M, Hatada I, Hori K, Hoshino M, Nakao A, Mori Y, Okabe S, Matsushita M, Urbach A, Katayama Y, Matsumoto A, Nakayama KI, Katori S, Sato T, Iwasato T, Nakamura H, Goshima Y, Raveau M, Tatsukawa T, Yamakawa K, Takahashi N, Kasai H, Inazawa J, Nobuhisa I, Kagawa T, Taga T, Darwish M, Nishizono H, Takao K, Sapkota K, Nakazawa K, Takagi T, Fujisawa H, Sugimura Y, Yamanishi K, Rajagopal L, Hannah ND, Meltzer HY, Yamamoto T, Wakatsuki S, Araki T, Tabuchi K, Numakawa T, Kunugi H, Huang FL, Hayata-Takano A, Hashimoto H, Tamada K, Takumi T, Kasahara T, Kato T, Graef IA, Crabtree GR, Asaoka N, Hatakama H, Kaneko S, Kohno T, Hattori M, Hoshiba Y, Miyake R, Obi-Nagata K, Hayashi-Takagi A, Becker LJ, Yalcin I, Hagino Y, Kotajima-Murakami H, Moriya Y, Ikeda K, Kim H, Kaang BK, Otabi H, Yoshida Y, Toyoda A, Komiyama NH, Grant SGN, Ida-Eto M, Narita M, Matsumoto KI, Okuda-Ashitaka E, Ohmori I, Shimada T, Yamagata K, Ageta H, Tsuchida K, Inokuchi K, Sassa T, Kihara A, Fukasawa M, Usuda N, Katano T, Tanaka T, Yoshihara Y, Igarashi M, Hayashi T, Ishikawa K, Yamamoto S, Nishimura N, Nakada K, Hirotsune S, Egawa K, Higashisaka K, Tsutsumi Y, Nishihara S, Sugo N, Yagi T, Ueno N, Yamamoto T, Kubo Y, Ohashi R, Shiina N, Shimizu K, Higo-Yamamoto S, Oishi K, Mori H, Furuse T, Tamura M, Shirakawa H, Sato DX, Inoue YU, Inoue T, Komine Y, Yamamori T, Sakimura K, Miyakawa T
Elife 2024 Mar 26;12 doi: 10.7554/eLife.89376. PMID: 38529532Free PMC Article
Specchio N, Trivisano M, Lenge M, Ferretti A, Mei D, Parrini E, Napolitano A, Rossi-Espagnet C, Talenti G, Longo D, Proietti J, Ragona F, Freri E, Solazzi R, Granata T, Darra F, Bernardina BD, Vigevano F, Guerrini R
Cereb Cortex 2023 Aug 23;33(17):9709-9717. doi: 10.1093/cercor/bhad235. PMID: 37429835Free PMC Article
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY
Am J Hum Genet 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. PMID: 35395208Free PMC Article
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G
Neuropediatrics 2021 Apr;52(2):109-122. Epub 2021 Feb 12 doi: 10.1055/s-0041-1722878. PMID: 33578439
Barone R, Gulisano M, Amore R, Domini C, Milana MC, Giglio S, Madia F, Mattina T, Casabona A, Fichera M, Rizzo R
Int J Dev Neurosci 2020 Jun;80(4):276-286. Epub 2020 Mar 25 doi: 10.1002/jdn.10024. PMID: 32159884

Recent systematic reviews

Cutillo G, Bonacchi R, Cecchetti G, Bellini A, Vabanesi M, Zambon A, Natali Sora MG, Baldoli C, Del Carro U, Minicucci F, Fanelli GF, Filippi M
Seizure 2023 Jul;109:45-49. Epub 2023 May 14 doi: 10.1016/j.seizure.2023.05.011. PMID: 37210930

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