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Aicardi syndrome(AIC)

MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Synonyms: AIC; Aicardi's syndrome; Corpus callosum, agenesis of, with chorioretinal abnormality
SNOMED CT: AIC - Aicardi syndrome (80651009); Aicardi syndrome (80651009); Aicardi's syndrome (80651009)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Monarch Initiative: MONDO:0010568
OMIM®: 304050
Orphanet: ORPHA50

Disease characteristics

Excerpted from the GeneReview: Aicardi Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
V Reid Sutton  |  Ignatia B Van den Veyver   view full author information

Additional descriptions

From OMIM
Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999).  http://www.omim.org/entry/304050
From MedlinePlus Genetics
Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

People with Aicardi syndrome often have additional brain abnormalities, including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this disorder have milder disability.

In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities such as small or poorly developed eyes (microphthalmia) or a gap or hole (coloboma) in the optic nerve, a structure that carries information from the eye to the brain. These eye abnormalities may cause blindness in affected individuals.

Some people with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows. Other features of this condition include small hands, hand malformations, and spinal and rib abnormalities leading to progressive abnormal curvature of the spine (scoliosis). They often have gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux, and difficulty feeding.

The severity of Aicardi syndrome varies. Some people with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms.  https://medlineplus.gov/genetics/condition/aicardi-syndrome

Clinical features

From HPO
Carcinoma
MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Lipoma
MedGen UID:
44173
Concept ID:
C0023798
Neoplastic Process
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Teratoma
MedGen UID:
21097
Concept ID:
C0039538
Neoplastic Process
The presence of a teratoma.
Hepatoblastoma
MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Metastatic angiosarcoma
MedGen UID:
163483
Concept ID:
C0854892
Neoplastic Process
An angiosarcoma that has spread to another anatomical site.
Proximal placement of thumb
MedGen UID:
356033
Concept ID:
C1865572
Finding
Proximal mislocalization of the thumb.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Choroid plexus cyst
MedGen UID:
87376
Concept ID:
C0338597
Finding
A cyst occurring within the choroid plexus within a cerebral ventricle.
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
Epileptic spasm
MedGen UID:
315948
Concept ID:
C1527366
Disease or Syndrome
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Cavum septum pellucidum
MedGen UID:
327087
Concept ID:
C1840380
Finding
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
Lateral ventricle dilatation
MedGen UID:
383904
Concept ID:
C1856409
Pathologic Function
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.
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).
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Dilated third ventricle
MedGen UID:
870494
Concept ID:
C4024941
Finding
An increase in size of the third ventricle.
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Supernumerary ribs
MedGen UID:
83380
Concept ID:
C0345397
Congenital Abnormality
The presence of more than 12 rib pairs.
Missing ribs
MedGen UID:
98093
Concept ID:
C0426816
Finding
A developmental anomaly with absence of one or more ribs.
Block vertebrae
MedGen UID:
375498
Concept ID:
C1844753
Congenital Abnormality
Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Prominence of the premaxilla
MedGen UID:
412683
Concept ID:
C2749369
Finding
Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.
Hiatus hernia
MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Bifid ribs
MedGen UID:
1648338
Concept ID:
C4721788
Anatomical Abnormality
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Butterfly vertebrae
MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Precocious puberty
MedGen UID:
18752
Concept ID:
C0034013
Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
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.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Coloboma of optic nerve
MedGen UID:
57832
Concept ID:
C0155299
Disease or Syndrome
A cleft of the optic nerve that extends inferiorly.
Chorioretinal lacunae
MedGen UID:
375497
Concept ID:
C1844751
Finding
Punched out lesions in the pigmented layer of the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAicardi syndrome
Follow this link to review classifications for Aicardi syndrome in Orphanet.

Professional guidelines

PubMed

Pomar L, Ochoa J, Cabet S, Huisman TAGM, Paladini D, Klaritsch P, Galmiche A, Prayer F, Gacio S, Haratz K, Malinger G, Van Mieghem T, Baud D, Bromley B, Lebon S, Dubruc E, Vial Y, Guibaud L
Prenat Diagn 2022 Apr;42(4):484-494. Epub 2022 Jan 10 doi: 10.1002/pd.6085. PMID: 34984691Free PMC Article
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L
Ultrasound Obstet Gynecol 2014 Mar;43(3):346-52. Epub 2014 Jan 2 doi: 10.1002/uog.12498. PMID: 23640781

Recent clinical studies

Etiology

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Govil-Dalela T, Kumar A, Agarwal R, Chugani HT
Pediatr Neurol 2017 Mar;68:44-48.e2. Epub 2017 Jan 4 doi: 10.1016/j.pediatrneurol.2016.12.002. PMID: 28214165
Happle R
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):21-3. Epub 2016 Jan 22 doi: 10.1002/ajmg.c.31469. PMID: 26799923
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Diagnosis

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Law JC, Breazzano MP, Eliott D
J Pediatr Ophthalmol Strabismus 2018 Sep 20;55(5):344. doi: 10.3928/01913913-20180409-03. PMID: 30231182
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821

Therapy

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699
Boninsegna E, Simonini E, Crosara S, Semeraro A, Colopi S
J Gastrointest Cancer 2021 Sep;52(3):1148-1150. Epub 2021 Feb 18 doi: 10.1007/s12029-021-00606-0. PMID: 33599921
Epperson MV, Born HL, Wang D, Myer CM 4th
Ann Otol Rhinol Laryngol 2020 Mar;129(3):301-305. Epub 2019 Oct 22 doi: 10.1177/0003489419883660. PMID: 31640397
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201
Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM
J Pediatr 1990 Jun;116(6):911-7. doi: 10.1016/s0022-3476(05)80649-3. PMID: 1971852

Prognosis

Masnada S, Alfei E, Formica M, Previtali R, Accorsi P, Arrigoni F, Bonanni P, Borgatti R, Darra F, Fusco C, De Giorgis V, Giordano L, La Briola F, Orcesi S, Osanni E, Parazzini C, Pinelli L, Rebessi E, Romaniello R, Romeo A, Spagnoli C, Uebler C, Varesio C, Viri M, Zucca C, Pichiecchio A, Veggiotti P
Clin Neurophysiol 2022 Oct;142:112-124. Epub 2022 Aug 3 doi: 10.1016/j.clinph.2022.07.496. PMID: 36030575
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Wong BKY, Sutton VR
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):423-431. Epub 2018 Dec 10 doi: 10.1002/ajmg.c.31658. PMID: 30536540
Govil-Dalela T, Kumar A, Agarwal R, Chugani HT
Pediatr Neurol 2017 Mar;68:44-48.e2. Epub 2017 Jan 4 doi: 10.1016/j.pediatrneurol.2016.12.002. PMID: 28214165
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Clinical prediction guides

Masnada S, Alfei E, Formica M, Previtali R, Accorsi P, Arrigoni F, Bonanni P, Borgatti R, Darra F, Fusco C, De Giorgis V, Giordano L, La Briola F, Orcesi S, Osanni E, Parazzini C, Pinelli L, Rebessi E, Romaniello R, Romeo A, Spagnoli C, Uebler C, Varesio C, Viri M, Zucca C, Pichiecchio A, Veggiotti P
Clin Neurophysiol 2022 Oct;142:112-124. Epub 2022 Aug 3 doi: 10.1016/j.clinph.2022.07.496. PMID: 36030575
Masnada S, Chiara D, Giana I, Manuela F, Marco S, Andrea A, Patrizia A, Nadia BB, Valeria C, Mara C, Bernardo DB, Francesca D, Valentina G, Elisa F, Miguel FRL, Carlo F, Lucio G, Simona O, Lorenzo P, Erika R, Antonino R, Mariasavina S, Carlotta S, Pierangelo V, Anna P, Andrea R, Cecilia P
Neuropediatrics 2020 Aug;51(4):276-285. Epub 2020 Jul 3 doi: 10.1055/s-0040-1710528. PMID: 32620025
Jacob J
Epilepsia 2016 Feb;57(2):182-93. Epub 2015 Dec 19 doi: 10.1111/epi.13272. PMID: 26682992
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Recent systematic reviews

Hajtovic S, LoPresti MA, Zhang L, Katlowitz KA, Kizek DJ, Lam S
J Neurosurg Pediatr 2022 Jun 1;29(6):667-680. Epub 2022 Mar 18 doi: 10.3171/2022.1.PEDS222. PMID: 35303699

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