Cognitive impairment, and Epileptic encephalopathy

Diseases related with Cognitive impairment and Epileptic encephalopathy

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Epileptic encephalopathy that can help you solving undiagnosed cases.


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30


Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

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Other less relevant matches:

Medium match MYOCLONIC-ASTASTIC EPILEPSY


Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37


Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

Medium match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53


Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53

Medium match FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY


Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Medium match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Medium match FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES


FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES Is also known as fenib|encephalopathy, familial, with collins bodies

Related symptoms:

  • Seizures
  • Nystagmus
  • Dysarthria
  • Tremor
  • Dystonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES

Top 5 symptoms//phenotypes associated to Cognitive impairment and Epileptic encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Encephalopathy Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Epileptic encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Status epilepticus Generalized tonic-clonic seizures Hypsarrhythmia Febrile seizures Myoclonus Developmental regression Generalized myoclonic seizures Aggressive behavior Tremor Intellectual disability, severe Dysarthria Atonic seizures Autistic behavior Nystagmus Dystonia EEG abnormality Hyperactivity Absent speech

Rare Symptoms - Less than 30% cases


Eyelid myoclonus Hypoplasia of the corpus callosum Cerebral atrophy Spastic tetraplegia Gliosis Delayed speech and language development Hyperreflexia Autism Spasticity Focal-onset seizure Tetraplegia Intellectual disability, moderate Feeding difficulties Absence seizures Bruxism Mental deterioration Scoliosis Attention deficit hyperactivity disorder Microcephaly Epileptic spasms Aphasia Dysphasia Language impairment Dysdiadochokinesis Hemiparesis Apraxia Behavioral abnormality Generalized-onset seizure Urinary incontinence Speech apraxia Progressive cerebellar ataxia Polymicrogyria Abnormal facial shape Neurological speech impairment Abnormal brain FDG positron emission tomography Oromotor apraxia Perisylvian polymicrogyria Neuronal loss in central nervous system Aspiration pneumonia Restlessness Alzheimer disease Apathy Aspiration Diplopia Abnormality of extrapyramidal motor function Distal sensory impairment Agnosia Cerebral cortical atrophy Dementia Pneumonia Depressivity Continuous spike and waves during slow sleep EEG with centrotemporal focal spike waves Hemiclonic seizures Intermittent hyperventilation Psychosis Hyperventilation Abnormality of movement Abnormality of the nervous system Involuntary movements Intellectual disability, mild Stereotypy Infantile spasms Choreoathetosis Rigidity Respiratory distress Cerebellar atrophy Gait disturbance Falls Myoclonic atonic seizures EEG with abnormally slow frequencies Impulsivity Photosensitive tonic-clonic seizures Muscular hypotonia of the trunk Dysmetria Cutaneous photosensitivity Intellectual disability, profound EEG with spike-wave complexes (>3.5 Hz) Motor delay Agitation Fever Multifocal epileptiform discharges Progressive spastic quadriplegia Progressive neurologic deterioration Increased serum lactate Respiratory insufficiency Dyskinesia Elevated serum creatine phosphokinase Visual impairment Abnormal myelination Myokymia Spastic tetraparesis Tetraparesis Perseveration



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