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Angelman syndrome(AS)

MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Synonyms: Angelman syndrome-like; AS; HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
SNOMED CT: Angelman's syndrome (76880004); Angelman syndrome (76880004); Happy puppet syndrome (76880004)
 
Gene (location): UBE3A (15q11.2)
OMIM®: 105830
Orphanet: ORPHA72

Disease characteristics

Excerpted from the GeneReview: Angelman Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious. [from GeneReviews]
Authors:
Aditi I Dagli  |  Jennifer Mueller  |  Charles A Williams   view full author information

Additional descriptions

From OMIM
Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region. Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.  http://www.omim.org/entry/105830
From GHR
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.  https://ghr.nlm.nih.gov/condition/angelman-syndrome

Clinical features

Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Blue irides
MedGen UID:
108297
Concept ID:
C0578626
Finding
A markedly blue coloration of the iris.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Behavioral Symptoms
MedGen UID:
14048
Concept ID:
C0004941
Sign or Symptom
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Dribbling from mouth
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
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.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Clumsiness
MedGen UID:
66690
Concept ID:
C0233844
Sign or Symptom
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Limb tremor
MedGen UID:
115980
Concept ID:
C0235081
Sign or Symptom
Brain atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Abnormal coordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
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.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Sleep-wake cycle disturbance
MedGen UID:
371548
Concept ID:
C1833362
Finding
Paroxysmal bursts of laughter
MedGen UID:
374299
Concept ID:
C1839749
Finding
Progressive gait ataxia
MedGen UID:
375309
Concept ID:
C1843885
Finding
A type of gait ataxia displaying progression of clinical severity.
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Finding
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. . There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber. - Drinking plenty of water and other liquids. - Getting enough exercise. - Taking time to have a bowel movement when you need to. - Using laxatives only if your doctor says you should. - Asking your doctor if medicines you take may cause constipation. . It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hernia of the abdominal wall
MedGen UID:
488973
Concept ID:
C1442978
Anatomical Abnormality
The presence of a hernia in the abdominal wall.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Anatomical Abnormality
Increased length and width of the tongue.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Flat occiput
MedGen UID:
332439
Concept ID:
C1837402
Finding
Reduced convexity of the occiput (posterior part of skull).
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Dribbling from mouth
MedGen UID:
8484
Concept ID:
C0013132
Sign or Symptom
Habitual flow of saliva out of the mouth.
Enophthalmos
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
An eye that is more deeply recessed into the plane of the face than is typical.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Anatomical Abnormality
Increased length and width of the tongue.
Congenital macrostomia
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Tooth malformation
MedGen UID:
11849
Concept ID:
C0040427
Congenital Abnormality
Congenital absence of or defects in structures of the teeth.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Maxillary hypoplasia
MedGen UID:
66804
Concept ID:
C0240310
Anatomical Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Protruding tongue
MedGen UID:
66831
Concept ID:
C0241442
Finding
Tongue extending beyond the alveolar ridges or teeth at rest.
Class III malocclusion
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Abnormality of the tongue
MedGen UID:
451075
Concept ID:
C0878638
Sign or Symptom
Any abnormality of the tongue.
Flat occiput
MedGen UID:
332439
Concept ID:
C1837402
Finding
Reduced convexity of the occiput (posterior part of skull).
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Hernia of the abdominal wall
MedGen UID:
488973
Concept ID:
C1442978
Anatomical Abnormality
The presence of a hernia in the abdominal wall.
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Blonde hair
MedGen UID:
116090
Concept ID:
C0239801
Finding
A lesser degree of hair pigmentation than would otherwise be expected.

Professional guidelines

PubMed

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics; American Society of Human Genetics
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. [Epub ahead of print] PMID: 25782669Free PMC Article
Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB
Genet Med 2001 May-Jun;3(3):206-11. doi: 10.109700125817-200105000-00011. PMID: 11388763Free PMC Article

External

Eurogentest, 2008

Recent clinical studies

Etiology

Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C
Am J Med Genet A 2015 Jul;167(7):1565-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37058. [Epub ahead of print] PMID: 25899869
Miodrag N, Peters S
J Intellect Disabil Res 2015 Sep;59(9):816-26. Epub 2015 Apr 1 doi: 10.1111/jir.12195. [Epub ahead of print] PMID: 25833412
Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL
Am J Med Genet A 2015 Feb;167A(2):331-44. Epub 2014 Nov 26 doi: 10.1002/ajmg.a.36864. [Epub ahead of print] PMID: 25428759
Robinson AA, Goldman S, Barnes G, Goodpaster L, Malow BA
J Child Neurol 2015 Jan;30(1):58-62. Epub 2014 May 11 doi: 10.1177/0883073814530498. [Epub ahead of print] PMID: 24820335
Grieco JC, Ciarlone SL, Gieron-Korthals M, Schoenberg MR, Smith AG, Philpot RM, Heussler HS, Banko JL, Weeber EJ
BMC Neurol 2014 Dec 10;14:232. doi: 10.1186/s12883-014-0232-x. [Epub ahead of print] PMID: 25491305Free PMC Article

Diagnosis

Ranasinghe JC, Chandradasa D, Fernando S, Kodithuwakku U, Mandawala DE, Dissanayake VH
J Med Case Rep 2015 Jun 16;9:142. doi: 10.1186/s13256-015-0622-8. [Epub ahead of print] PMID: 26077608Free PMC Article
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C
Am J Med Genet A 2015 Jul;167(7):1565-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37058. [Epub ahead of print] PMID: 25899869
Robinson AA, Goldman S, Barnes G, Goodpaster L, Malow BA
J Child Neurol 2015 Jan;30(1):58-62. Epub 2014 May 11 doi: 10.1177/0883073814530498. [Epub ahead of print] PMID: 24820335
Goto M, Saito Y, Honda R, Saito T, Sugai K, Matsuda Y, Miyatake C, Takeshita E, Ishiyama A, Komaki H, Nakagawa E, Sasaki M, Uto C, Kikuchi K, Motoki T, Saitoh S
Brain Dev 2015 Feb;37(2):216-22. Epub 2014 May 3 doi: 10.1016/j.braindev.2014.04.005. [Epub ahead of print] PMID: 24796722

Therapy

Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Hethorn WR, Ciarlone SL, Filonova I, Rogers JT, Aguirre D, Ramirez RA, Grieco JC, Peters MM, Gulick D, Anderson AE, L Banko J, Lussier AL, Weeber EJ
Eur J Neurosci 2015 May;41(10):1372-80. Epub 2015 Apr 13 doi: 10.1111/ejn.12893. [Epub ahead of print] PMID: 25864922Free PMC Article
Grieco JC, Ciarlone SL, Gieron-Korthals M, Schoenberg MR, Smith AG, Philpot RM, Heussler HS, Banko JL, Weeber EJ
BMC Neurol 2014 Dec 10;14:232. doi: 10.1186/s12883-014-0232-x. [Epub ahead of print] PMID: 25491305Free PMC Article
Bailus BJ, Segal DJ
BMC Neurosci 2014 Jun 19;15:76. doi: 10.1186/1471-2202-15-76. [Epub ahead of print] PMID: 24946931Free PMC Article
Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA
Epilepsia 2012 Sep;53(9):1498-502. Epub 2012 Jul 10 doi: 10.1111/j.1528-1167.2012.03537.x. [Epub ahead of print] PMID: 22779920

Prognosis

Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016;11(2):e0147824. Epub 2016 Feb 3 doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Østergaard JR
Am J Med Genet A 2013 Sep;161A(9):2197-203. Epub 2013 Aug 2 doi: 10.1002/ajmg.a.36058. [Epub ahead of print] PMID: 23913711
Rusińska A, Dzwonek AB, Chlebna-Sokół D
Bone 2013 Aug;55(2):461-4. Epub 2013 Apr 12 doi: 10.1016/j.bone.2013.04.004. [Epub ahead of print] PMID: 23747006
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ
Epilepsy Res 2013 Jul;105(1-2):234-9. Epub 2013 Jan 23 doi: 10.1016/j.eplepsyres.2012.12.005. [Epub ahead of print] PMID: 23352739
Novy J, Catarino CB, Chinthapalli K, Smith SM, Clayton-Smith J, Hennekam RC, Hammond P, Sisodiya SM
Eur J Med Genet 2012 May;55(5):338-41. Epub 2012 Jan 25 doi: 10.1016/j.ejmg.2012.01.008. [Epub ahead of print] PMID: 22342448

Clinical prediction guides

Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C
Am J Med Genet A 2015 Jul;167(7):1565-9. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37058. [Epub ahead of print] PMID: 25899869
Grieco JC, Ciarlone SL, Gieron-Korthals M, Schoenberg MR, Smith AG, Philpot RM, Heussler HS, Banko JL, Weeber EJ
BMC Neurol 2014 Dec 10;14:232. doi: 10.1186/s12883-014-0232-x. [Epub ahead of print] PMID: 25491305Free PMC Article
Kuroda Y, Ohashi I, Saito T, Nagai J, Ida K, Naruto T, Wada T, Kurosawa K
Am J Med Genet A 2014 Nov;164A(11):2873-8. Epub 2014 Aug 6 doi: 10.1002/ajmg.a.36704. [Epub ahead of print] PMID: 25099823
Mertz LG, Christensen R, Vogel I, Hertz JM, Østergaard JR
Res Dev Disabil 2014 Nov;35(11):2681-90. Epub 2014 Jul 26 doi: 10.1016/j.ridd.2014.07.025. [Epub ahead of print] PMID: 25064682
Leyser M, Penna PS, de Almeida AC, Vasconcelos MM, Nascimento OJ
Neurol Sci 2014 May;35(5):701-5. Epub 2014 Jan 7 doi: 10.1007/s10072-013-1586-3. [Epub ahead of print] PMID: 24395242

Recent systematic reviews

Leung HT, Ring H
J Intellect Disabil Res 2013 Jan;57(1):3-20. Epub 2011 Dec 6 doi: 10.1111/j.1365-2788.2011.01505.x. [Epub ahead of print] PMID: 22142420
Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E
Am J Med Genet A 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447. PMID: 20575009
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J
Am J Med Genet A 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. PMID: 16470747
Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, Grossmann RM, Marques-Dias MJ
Arch Neurol 2006 Jan;63(1):122-8. doi: 10.1001/archneur.63.1.122. PMID: 16401744
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM
Am J Med Genet 1995 Mar 27;56(2):237-8. doi: 10.1002/ajmg.1320560224. PMID: 7625452

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