Landau-Kleffner syndrome
Synonyms: Acquired epileptic aphasia · LKS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Childhood
- Status
- active
A rare form of epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS) characterized by various combinations of acquired cognitive, language, behavioral, and motor deficits associated with marked spike- and- wave activation in sleep. In Landau-Kleffner syndrome (LKS), receptive language is mainly affected, with an acquired auditory verbal agnosia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Landau-Kleffner syndrome | Acquired epileptic aphasia · LKS |
| fr | Syndrome de Landau-Kleffner | Aphasie acquise de l'enfant avec épilepsie · LKS · SLK |
| de | Landau-Kleffner-Syndrom | Erworbene epileptische Aphasie · LKS |
| es | Síndrome de Landau-Kleffner | Afasia epiléptica adquirida · LKS |
| it | Sindrome di Landau-Kleffner | Afasia epilettica acquisita · LKS |
| nl | Syndroom van Landau-Kleffner | LKS · Verworven epileptische afasie |
| pt | Síndrome de Landau-Kleffner (LKS) | |
| pl | Zespół Landaua i Kleffnera | LKS · Nabyta afazja padaczkowa |
| cs | Landauův-Kleffnerův syndrom | Získaná epileptická afázie · LKS · Landau-Kleffnerův syndrom |
| uk | Синдром Ландау-Клеффнера | Набута епілептична афазія · LKS |
| zh | Landau-Kleffner综合征 | 获得性癫痫性失语 |
| tr | Landau-Kleffner sendromu | LKS · Edinsel epileptik afazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245570 | NTBT | validated | |
| ICD-10 | F80.3 | E | specific | validated |
| ICD-11 | 8A62.2 | E | specific | validated |
| MONDO | 0009509 | E | validated | |
| MeSH | D018887 | E | validated | |
| UMLS | C0282512 | E | validated | |
| GARD | 6855 | E | validated | |
| MedDRA | 10052075 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4585 | ENSG00000183454 | 138253 | 16p13.2 | glutamate ionotropic receptor NMDA type subunit 2A | 23933820[PMID]_23933819[PMID]_23933818[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Japan | Value and class | Validated | 23706409[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
44 annotations · validated 2021-03-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0025373 | Interictal EEG abnormality | |
| HP:0002463 | Language impairment | |
| HP:0002371 | Loss of speech | |
| HP:0001250 | Seizure | |
| HP:0011098 | Speech apraxia | |
| HP:0030391 | Spoken Word Recognition Deficit | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0002376 | Developmental regression | |
| HP:0012015 | EEG with frontal focal spikes | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0012018 | EEG with temporal focal spikes | |
| HP:0011153 | Focal motor seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0007086 | Social and occupational deterioration | |
| HP:0009088 | Speech articulation difficulties | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0007270 | Atypical absence seizure | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000716 | Depression | |
| HP:0003698 | Difficulty standing | |
| HP:0000712 | Emotional lability | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0100710 | Impulsivity | |
| HP:0002354 | Memory impairment | |
| HP:0002300 | Mutism | |
| HP:0031951 | Nocturnal seizures | |
| HP:0032671 | Non-convulsive status epilepticus without coma | |
| HP:0000736 | Short attention span | |
| HP:0002360 | Sleep abnormality | |
| HP:0001350 | Slurred speech | |
| HP:0003376 | Steppage gait | |
| Very rare (<4-1%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0200134 | Epileptic encephalopathy | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 30537476[PMID]_31149903[PMID]_32257722[PMID]_31613525[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98818
- This record as JSON: /data/d/98818.json