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Focal seizures

MedGen UID:
199670
Concept ID:
C0751495
Disease or Syndrome
Synonym: Partial seizures
SNOMED CT: Focal seizure (29753000); Partial seizure (29753000); Local seizure (29753000); Local convulsion (29753000); Partial seizures (29753000)
 
HPO: HP:0007359

Definition

A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal seizures

Conditions with this feature

Myoclonic epilepsy, familial infantile
MedGen UID:
181488
Concept ID:
C0917800
Disease or Syndrome
TBC1D24-related disorders comprise a continuum of features that were originally described as distinct, recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). Profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability / developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME). Early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME). Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86. Profound prelingual deafness. Autosomal dominant nonsyndromic hearing loss, DFNA65. Slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.
Epilepsy, nocturnal frontal lobe, type 1
MedGen UID:
324932
Concept ID:
C1838049
Disease or Syndrome
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer cramp syndrome
MedGen UID:
334104
Concept ID:
C1842531
Disease or Syndrome
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019).
Seizures, benign familial infantile, 3
MedGen UID:
375105
Concept ID:
C1843140
Disease or Syndrome
Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
MedGen UID:
337150
Concept ID:
C1845070
Disease or Syndrome
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
MedGen UID:
337214
Concept ID:
C1845343
Disease or Syndrome
X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
Early infantile epileptic encephalopathy 9
MedGen UID:
338393
Concept ID:
C1848137
Disease or Syndrome
Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.
Seizures, benign familial infantile, 2
MedGen UID:
381313
Concept ID:
C1853995
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Generalized epilepsy with febrile seizures plus, type 2
MedGen UID:
388117
Concept ID:
C1858673
Disease or Syndrome
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.
Infantile convulsions and choreoathetosis
MedGen UID:
356123
Concept ID:
C1865926
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Benign Rolandic epilepsy
MedGen UID:
432274
Concept ID:
C2363129
Disease or Syndrome
Benign epilepsy of childhood with centrotemporal spikes (BECTS) or sharp waves, also known as rolandic epilepsy, is the most common idiopathic childhood epilepsy syndrome (Neubauer et al., 1998). It is termed 'rolandic' epilepsy because of the characteristic features of partial seizures involving the region around the lower portion of the central gyrus of Rolando. This results in classic focal seizures that affect the vocal tract, beginning with guttural sounds at the larynx and sensorimotor symptoms that progress to the tongue, mouth, and face, resulting in hypersalivation and speech arrest. Seizures most often occur in sleep shortly before awakening. The disorder occurs more often in boys than in girls (3:2). Rolandic epilepsy is considered a neurodevelopmental disorder, affecting 0.2% of the population. Affected individuals may have learning disabilities or behavioral problems; however, the seizures and accompanying problems usually remit during adolescence (summary by Strug et al., 2009). See also focal epilepsy and speech disorder (FESD; 245570), which is caused by mutation in the GRIN2A gene (138253) on chromosome 16p13. Some patients with GRIN2A mutations show features consistent with a clinical diagnosis of BECTS. Some patients with DEPDC5 (614191) mutations may show features consistent with rolandic epilepsy (see FFEVF, 604364).
Pitt-Hopkins-like syndrome 1
MedGen UID:
413258
Concept ID:
C2750246
Disease or Syndrome
PTHSL1 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).
Epilepsy, idiopathic generalized 10
MedGen UID:
414062
Concept ID:
C2751603
Finding
Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see 600669. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see 254770.
Generalized epilepsy with febrile seizures plus, type 7
MedGen UID:
416630
Concept ID:
C2751778
Disease or Syndrome
Patients with isolated febrile seizures (FEB3B) usually have onset between ages 5 months to 4 years and show spontaneous remission by age 6 years (summary by Singh et al., 2009), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 1999). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210.
Epilepsy, familial adult myoclonic, 3
MedGen UID:
462210
Concept ID:
C3150860
Disease or Syndrome
Familial adult myoclonic epilepsy-3 (FAME3) is an autosomal dominant neurologic disorder characterized by onset of cortical tremor, mainly affecting the hands and voice, between 10 and 40 years of age, with adult onset being more common. Most affected individuals develop epilepsy with generalized tonic-clonic seizures; some may have partial or absence seizures. The disorder is nonprogressive or slowly progressive, and most patients respond to antiseizure medication (summary by Florian et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (601068).
Early infantile epileptic encephalopathy 12
MedGen UID:
462338
Concept ID:
C3150988
Disease or Syndrome
Developmental and epileptic encephalopathy-12 (DEE12) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Affected infants may have normal or mildly delayed development before the onset of seizures, but thereafter show severe developmental regression and stagnation. Seizure types vary: focal seizures, infantile spasms, and generalized tonic-clonic seizures may occur, even within the same patient. EEG may show hypsarrhythmia, consistent with West syndrome, or a pattern consistent with 'malignant migrating partial seizures in infancy' (MMPSI). Patients have little or no developmental progress: there is absent speech, hypotonia, poor motor skills, peripheral spasticity, and impaired visual fixation (summary by Kurian et al., 2010 and Poduri et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350.
Spastic paraplegia 52, autosomal recessive
MedGen UID:
481373
Concept ID:
C3279743
Disease or Syndrome
AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. Early-onset hypotonia evolves into progressive lower-extremity spasticity. The majority of children become nonambulatory and usually wheelchair bound. Over time spasticity progresses to involve the upper extremities, resulting in a spastic tetraplegia. Associated complications include dysphagia, contractures, foot deformities, dysregulation of bladder and bowel function, and a pseudobulbar affect. About 50% of affected individuals have seizures. Postnatal microcephaly (usually in the -2SD to -3SD range) is common. All have developmental delay. Speech development is significantly impaired and many affected individuals remain nonverbal. Intellectual disability in older children is usually moderate to severe.
Porencephaly 2
MedGen UID:
482600
Concept ID:
C3280970
Disease or Syndrome
Brain small vessel disease-2 is an autosomal dominant disorder characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration. The disorder is often associated with 'porencephaly' on brain imaging. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012). For a discussion of genetic heterogeneity of brain small vessel disease, see BSVD1 (175780).
Mental retardation, autosomal dominant 13
MedGen UID:
482832
Concept ID:
C3281202
Mental or Behavioral Dysfunction
MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).
Epilepsy, nocturnal frontal lobe, 5
MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
Early infantile epileptic encephalopathy 18
MedGen UID:
815954
Concept ID:
C3809624
Disease or Syndrome
Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Early infantile epileptic encephalopathy 34
MedGen UID:
899149
Concept ID:
C4225257
Disease or Syndrome
SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS), reported to date in nine children, is characterized by onset of seizures before age six months and either developmental delay or developmental regression with seizure onset. Of these nine children, six had severe developmental delay with no progress of abilities and three made notable neurodevelopmental progress. Eight had postnatal microcephaly and hypotonia. In most children epilepsy begins as focal motor seizures (typically involving head and eye deviation) that become multifocal and intractable to conventional antiepileptic drugs (AEDs).
Mental retardation, autosomal recessive 57
MedGen UID:
934640
Concept ID:
C4310673
Disease or Syndrome
Seizures, benign familial infantile, 1
MedGen UID:
1638448
Concept ID:
C4551769
Disease or Syndrome
Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21.
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MedGen UID:
1684884
Concept ID:
C5231442
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements
MedGen UID:
1684874
Concept ID:
C5231491
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication, and a subset of patients develop cortical visual impairment and involuntary hyperkinetic movements, including chorea and dystonia. Some of the features are reminiscent of Rett syndrome (RTT; 312750) (summary by Salpietro et al., 2019).
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
MedGen UID:
1708832
Concept ID:
C5393312
Disease or Syndrome
Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Spastic paraplegia 82, autosomal recessive
MedGen UID:
1710411
Concept ID:
C5394037
Disease or Syndrome
Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Neurodevelopmental disorder with language impairment and behavioral abnormalities
MedGen UID:
1708389
Concept ID:
C5394502
Disease or Syndrome
Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression (Salpietro et al., 2019).
Periventricular nodular heterotopia 9
MedGen UID:
1718470
Concept ID:
C5394503
Disease or Syndrome
Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018). For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.
Mitochondrial DNA depletion syndrome 19
MedGen UID:
1770258
Concept ID:
C5436514
Disease or Syndrome
Neurodevelopmental disorder with seizures and brain atrophy
MedGen UID:
1748227
Concept ID:
C5436732
Disease or Syndrome
Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by Coulter et al., 2020).
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MedGen UID:
1731507
Concept ID:
C5436783
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
MedGen UID:
1764121
Concept ID:
C5436788
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
MedGen UID:
1727046
Concept ID:
C5436894
Disease or Syndrome
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020).
Neurodevelopmental disorder with or without early-onset generalized epilepsy
MedGen UID:
1737097
Concept ID:
C5436914
Disease or Syndrome
Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018).

Recent clinical studies

Etiology

Zhang L, Wang J, Wang C
Acta Neurol Scand 2021 Jul;144(1):58-66. Epub 2021 Mar 31 doi: 10.1111/ane.13422. PMID: 33788253
Petrilla AA, Sutton BS, Leinwand BI, Parente A, Ferrari L, Wade CT
Epilepsy Behav 2020 Nov;112:107426. Epub 2020 Sep 19 doi: 10.1016/j.yebeh.2020.107426. PMID: 32961390
van Roest A, Van de Vel A, Lederer D, Ceulemans B
Eur J Paediatr Neurol 2020 Jan;24:148-153. Epub 2019 Dec 13 doi: 10.1016/j.ejpn.2019.12.003. PMID: 31901402
Aupy J, Wendling F, Taylor K, Bulacio J, Gonzalez-Martinez J, Chauvel P
Brain 2019 May 1;142(5):1282-1295. doi: 10.1093/brain/awz062. PMID: 30938430
Serino D, Freri E, Ragona F, D'Incerti L, Bernardi B, Di Ciommo V, Granata T, Vigevano F, Fusco L
Epilepsy Res 2015 Jan;109:203-9. Epub 2014 Nov 26 doi: 10.1016/j.eplepsyres.2014.11.006. PMID: 25524860

Diagnosis

Zhang L, Wang J, Wang C
Acta Neurol Scand 2021 Jul;144(1):58-66. Epub 2021 Mar 31 doi: 10.1111/ane.13422. PMID: 33788253
Petrilla AA, Sutton BS, Leinwand BI, Parente A, Ferrari L, Wade CT
Epilepsy Behav 2020 Nov;112:107426. Epub 2020 Sep 19 doi: 10.1016/j.yebeh.2020.107426. PMID: 32961390
Chung SS, French JA, Kowalski J, Krauss GL, Lee SK, Maciejowski M, Rosenfeld WE, Sperling MR, Mizne S, Kamin M
Neurology 2020 Jun 2;94(22):e2311-e2322. Epub 2020 May 14 doi: 10.1212/WNL.0000000000009530. PMID: 32409485Free PMC Article
van Roest A, Van de Vel A, Lederer D, Ceulemans B
Eur J Paediatr Neurol 2020 Jan;24:148-153. Epub 2019 Dec 13 doi: 10.1016/j.ejpn.2019.12.003. PMID: 31901402
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R
Brain 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. PMID: 31532509

Therapy

Lee SK, Heo K, Kim SE, Lee SA, Elmoufti S, Laloyaux C, Hur B
Adv Ther 2021 Jul;38(7):4082-4099. Epub 2021 Jun 21 doi: 10.1007/s12325-021-01816-5. PMID: 34155568
Zhang L, Wang J, Wang C
Acta Neurol Scand 2021 Jul;144(1):58-66. Epub 2021 Mar 31 doi: 10.1111/ane.13422. PMID: 33788253
Petrilla AA, Sutton BS, Leinwand BI, Parente A, Ferrari L, Wade CT
Epilepsy Behav 2020 Nov;112:107426. Epub 2020 Sep 19 doi: 10.1016/j.yebeh.2020.107426. PMID: 32961390
Steinhoff BJ, Patten A, Williams B, Malhotra M
Epilepsia 2020 Feb;61(2):278-286. Epub 2020 Jan 16 doi: 10.1111/epi.16428. PMID: 31944276Free PMC Article
Feng W, Mei S, Han J, Zhu L, Yu Y, Gao B, Wu Y, Li J, Zhao Z, Fang F
Neurol Sci 2019 Mar;40(3):523-528. Epub 2018 Dec 18 doi: 10.1007/s10072-018-3681-y. PMID: 30564963

Prognosis

Ville D, Lesca G, Labalme A, Portes VD, Arzimanoglou A, de Bellescize J
Epileptic Disord 2020 Jun 1;22(3):327-335. doi: 10.1684/epd.2020.1168. PMID: 32597768
Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R
Brain 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240. PMID: 31532509
Zibrandtsen IC, Weisdorf S, Ballegaard M, Beniczky S, Kjaer TW
Clin Neurophysiol 2019 Jun;130(6):879-885. Epub 2019 Mar 22 doi: 10.1016/j.clinph.2019.03.001. PMID: 30981172
Freibauer A, Jones K
Epileptic Disord 2018 Dec 1;20(6):541-544. doi: 10.1684/epd.2018.1011. PMID: 30530441
Arnold S, Badalamenti V, Diaz A, Gasalla T, McShea C, Whitesides J, Fakhoury T
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Recent systematic reviews

Zhang L, Wang J, Wang C
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