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Items: 9

1.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
2.

Epileptic encephalopathy, early infantile, 1

Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm. EIEE1 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1) to syndromic (309510) and nonsyndromic (300419) mental retardation. Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). Genetic Heterogeneity of Early Infantile Epileptic Encephalopathy EIEE is a genetically heterogeneous disorder. See EIEE2 (300672), caused by mutation in the CDKL5 gene (300203); EIEE3 (609304), caused by mutation in the SLC25A22 gene (609302); EIEE4 (612164), caused by mutation in the STXBP1 gene (602926); EIEE5 (613477), caused by mutation in the SPTAN1 gene (182810); EIEE6 (607208), also known as Dravet syndrome, caused by mutation in the SCN1A gene (182389); EIEE7 (613720), caused by mutation in the KCNQ2 gene (602235); EIEE8 (300607), caused by mutation in the ARHGEF9 gene (300429); EIEE9 (300088), caused by mutation in the PCDH19 gene (300460); EIEE10 (613402), caused by mutation in the PNKP gene (605610); EIEE11 (613721), caused by mutation in the SCN2A gene (182390); EIEE12 (613722), caused by mutation in the PLCB1 gene (607120); EIEE13 (614558), caused by mutation in the SCN8A gene (600702); EIEE14 (614959), caused by mutation in the KCNT1 gene (608167); EIEE15 (615006), caused by mutation in the ST3GAL3 gene (606494); EIEE16 (615338), caused by mutation in the TBC1D24 gene (613577); EIEE17 (615473), caused by mutation in the GNAO1 gene (139311); EIEE18 (615476), caused by mutation in the SZT2 gene (615463); EIEE19 (615744), caused by mutation in the GABRA1 gene (137160); EIEE20 (300868), caused by mutation in the PIGA gene (311770); EIEE21 (615833), caused by mutation in the NECAP1 gene (611623); EIEE22 (300896), caused by mutation in the SLC35A2 gene (314375); EIEE23 (615859), caused by mutation in the DOCK7 gene (615730); EIEE24 (615871), caused by mutation in the HCN1 gene (602780); EIEE25 (615905), caused by mutation in the SLC13A5 gene (608305); EIEE26 (616056), caused by mutation in the KCNB1 gene (600397); EIEE27 (616139), caused by mutation in the GRIN2B gene (138252); EIEE28 (616211), caused by mutation in the WWOX gene (605131); EIEE29 (616339), caused by mutation in the AARS gene (601065); EIEE30 (616341), caused by mutation in the SIK1 gene (605705); EIEE31 (616346), caused by mutation in the DNM1 gene (602377); EIEE32 (616366), caused by mutation in the KCNA2 gene (176262); EIEE33 (616409), caused by mutation in the EEF1A2 gene (602959); EIEE34 (616645), caused by mutation in the SLC12A5 gene (606726); EIEE35 (616647), caused by mutation in the ITPA gene (147520); and EIEE36 (300884), caused by mutation in the ALG13 gene (300776). The phenotype is also observed in other genetic disorders, including GLUT1 deficiency syndrome (606777); glycine encephalopathy (605899); Aicardi-Goutieres syndrome (225750); and in males with MECP2 mutations (300673), among others. For associations pending confirmation, see MOLECULAR GENETICS. [from OMIM]

MedGen UID:
483052
Concept ID:
C3463992
Disease or Syndrome
3.

X-linked infantile spasm syndrome

MedGen UID:
419525
Concept ID:
C2931919
Disease or Syndrome
4.

Lissencephaly 2, X-linked

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

MedGen UID:
375832
Concept ID:
C1846171
Disease or Syndrome
5.

Hydranencephaly and Abnormal Genitalia

MedGen UID:
337524
Concept ID:
C1846172
Disease or Syndrome
6.

Mental retardation, with or without seizures, ARX-related, X-linked

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

MedGen UID:
208681
Concept ID:
C0796244
Disease or Syndrome
7.

Partington X-linked mental retardation syndrome

Partington syndrome is an X-linked developmental disorder characterized by mental retardation and variable movement disturbances. Partington syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to nonsyndromic mental retardation (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

MedGen UID:
163237
Concept ID:
C0796250
Disease or Syndrome
8.

Proud Levine Carpenter syndrome

Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

MedGen UID:
163217
Concept ID:
C0796124
Disease or Syndrome
9.

West syndrome

X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives.Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures.Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
[from GHR]

MedGen UID:
11519
Concept ID:
C0037769
Disease or Syndrome; Finding
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