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Items: 13

1.

Unverricht-Lundborg syndrome

Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling. [from GeneReviews]

MedGen UID:
155923
Concept ID:
C0751785
Disease or Syndrome
2.

Epilepsy, idiopathic generalized, susceptibility to, 9

For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see 600669. Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy; see 254770 for a general phenotypic description and a discussion of genetic heterogeneity of JME. [from OMIM]

MedGen UID:
413424
Concept ID:
C2750887
Finding
3.

Febrile seizures, familial, 8

Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by Singh et al., 1999 and Marini et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131. [from OMIM]

MedGen UID:
370755
Concept ID:
C1969810
Disease or Syndrome
4.

Epilepsy, childhood absence, susceptibility to, 1

Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002). Genetic Heterogeneity of Susceptibility to Childhood Absence Epilepsy The ECA1 locus has been mapped to chromosome 8q24; see also EIG1 (see 600669), which also maps to 8q24. Susceptibility to the development of childhood absence epilepsy may be conferred by variation in several genes: ECA2 (see 607681), conferred by variation in the GABRG2 gene (137164) on chromosome 5q31.1; ECA4 (611136), conferred by variation in the GABRA1 gene (137160) on chromosome 5q34; ECA5 (612269), conferred by variation in the GABRB3 gene (137192) on chromosome 15q12; and ECA6 (see 611942), conferred by variation in the CACNA1H gene (607904) on chromosome 16p13. See EIG11 (607628) for discussion of a locus previously designated ECA3 on chromosome 3q26. [from OMIM]

MedGen UID:
325057
Concept ID:
C1838604
Finding
5.

Intellectual developmental disorder with seizures and language delay

SETD1B-related neurodevelopmental disorder (SETD1B-NDD) is characterized by developmental delay (mainly affecting speech and language), intellectual disability, seizures, autism spectrum disorder or autism-like behaviors, and additional behavioral concerns. Speech delay and/or language disorder has been reported in most affected individuals. Delay in gross motor skills and mild-to-moderate intellectual disability are common. Most affected individuals have seizures with variable onset and seizure type. Behavioral issues including hyperactivity, aggression, anxiety, and sleep disorders have been reported in approximately half of individuals. Less common features include ophthalmologic manifestations and feeding issues. [from GeneReviews]

MedGen UID:
1740295
Concept ID:
C5436574
Disease or Syndrome
6.

Developmental and epileptic encephalopathy, 56

Developmental and epileptic encephalopathy-56 (DEE56) is a neurodevelopmental disorder characterized by early-onset seizures in most patients, followed by impaired intellectual development, variable behavioral abnormalities, and sometimes additional neurologic features, such as ataxia (summary by Guella et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1621755
Concept ID:
C4540034
Disease or Syndrome
7.

Intellectual developmental disorder 60 with seizures

Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019). [from OMIM]

MedGen UID:
1684702
Concept ID:
C5231497
Disease or Syndrome
8.

Intellectual developmental disorder, autosomal recessive 74

MRT74 is characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported (Almuriekhi et al., 2015; Mastrangelo et al., 2020). [from OMIM]

MedGen UID:
934651
Concept ID:
C4310684
Disease or Syndrome
9.

Developmental and epileptic encephalopathy 103

Developmental and epileptic encephalopathy-103 (DEE103) is characterized by onset of various types of seizures in the first year of life, most of which are refractory to treatment. Affected individuals show global developmental delay with impaired intellectual development ranging from mild to severe. Additional features may include hypotonia, ataxia, and behavioral abnormalities, including autism and hyperactivity (Schwarz et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

MedGen UID:
1809962
Concept ID:
C5677002
Disease or Syndrome
10.

Developmental delay with or without epilepsy

Developmental delay with or without epilepsy (DEVEP) is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. Hypotonia and behavioral abnormalities are common. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5. In general, the phenotype is similar to but milder than DEE5. Some individuals with DEVEP have ataxia or nystagmus associated with cerebellar atrophy on brain imaging, indicating phenotypic overlap with the allelic disorder SPG91 (Morsy et al., 2023). In a study of 31 individuals with SPTAN1 mutations, Morsy et al. (2023) delineated 3 distinct phenotypic subgroups: DEE5; a milder phenotype of developmental delay with or without seizures (DEVEP); and pure or complicated spastic paraplegia/ataxia (SPG91). Syrbe et al. (2017) similarly emphasized the remarkably broad phenotypic spectrum of neurologic disorders associated with heterozygous SPTAN1 mutations in their cohort study. [from OMIM]

MedGen UID:
1848555
Concept ID:
C5882702
Disease or Syndrome
11.

Epilepsy, familial adult myoclonic, 4

MedGen UID:
767474
Concept ID:
C3554560
Disease or Syndrome
12.

Myoclonic epilepsy, juvenile, susceptibility to, 4

MedGen UID:
370067
Concept ID:
C1969656
Disease or Syndrome
13.

EEG with polyspike wave complexes

The presence of complexes of repetitive spikes and waves in EEG. [from HPO]

MedGen UID:
867392
Concept ID:
C4021757
Finding
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