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1  cerebellar ataxia, spasticity, dystonia and myoclonic epilepsy.
2 of spinocerebellar ataxia and familial adult myoclonic epilepsy.
3 ts, which causes autosomal dominant juvenile myoclonic epilepsy.
4  Lafora disease, a fatal form of progressive myoclonic epilepsy.
5 king, leading to autosomal dominant juvenile myoclonic epilepsy.
6 cht-Lundborg Syndrome, a progressive form of myoclonic epilepsy.
7  so constitutes an endophenotype of juvenile myoclonic epilepsy.
8 ologues are related to the cause of juvenile myoclonic epilepsy.
9  optic atrophy, and recent-onset intractable myoclonic epilepsy.
10 ities in the medial frontal lobe in juvenile myoclonic epilepsy.
11 effort can cause myoclonic jerks in juvenile myoclonic epilepsy.
12 nstrued as a novel endophenotype of juvenile myoclonic epilepsy.
13 idiopathic generalized epilepsy and juvenile myoclonic epilepsy.
14 epsy with febrile seizures plus and juvenile myoclonic epilepsy.
15 2X was identified in a patient with juvenile myoclonic epilepsy.
16                Twenty patients with juvenile myoclonic epilepsy, 10 patients each with childhood abse
17 re and function in 37 patients with juvenile myoclonic epilepsy, 16 unaffected siblings and 20 health
18 paraplegia (8q24), and benign adult familial myoclonic epilepsy (8q23.3-q24.1).
19  epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febrile convuls
20 auses an autosomal dominant form of juvenile myoclonic epilepsy (ADJME).
21 ortical regions in 30 patients with juvenile myoclonic epilepsy and 26 healthy controls.
22  neurodegenerative disorder characterized by myoclonic epilepsy and cognitive deficits.
23 ings affected by a progressive disorder with myoclonic epilepsy and dementia.
24 in a cohort of 28 participants with juvenile myoclonic epilepsy and detected changes in an anterior t
25 pilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-c
26 sent various neurological disorders such as: myoclonic epilepsy and hypotonia, often associated with
27 RNA(Lys) A8344G mutation associated with the myoclonic epilepsy and ragged red fiber (MERRF) encephal
28 (MELAS); the tRNA(Lys) 8344 mutation causing myoclonic epilepsy and ragged red fibers (MERRF); and th
29 samples from the proband revealed the A8344G myoclonic epilepsy and ragged-red fiber (MERRF) mutation
30                                     Juvenile myoclonic epilepsy and the EEG trait segregated as an au
31 vidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to 6.0-Hz,
32 pe and positioning in patients with juvenile myoclonic epilepsy and their siblings, which are associa
33  has been reported in patients with juvenile myoclonic epilepsy and their unaffected siblings.
34 Individuals with autosomal dominant juvenile myoclonic epilepsy are heterozygous for a GABA(A) recept
35 nign familial neonatal convulsions, juvenile myoclonic epilepsy, as well as benign epilepsy with cent
36 al data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium.
37 sion provides not only a candidate for human myoclonic epilepsy but also insights into the disease et
38 al motor phenomena, from reflex myoclonus to myoclonic epilepsy, caused by abnormal sensorimotor cort
39                                       Infant myoclonic epilepsy developed in another child, with spon
40 ein Jerky, previously implicated in juvenile myoclonic epilepsy development.
41                               Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical m
42 sychological and imaging studies in juvenile myoclonic epilepsy have consistently pointed towards sub
43 sial, and functional MRI studies in juvenile myoclonic epilepsy have not tested hippocampal activatio
44 mogenous patient populations (PAX6, juvenile myoclonic epilepsy) have strengthened the link between g
45 e-gated sodium channel Na(V)1.1 cause severe myoclonic epilepsy in infancy (SMEI), an infantile-onset
46  mutations of Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI), which is accompani
47 lus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI).
48  mutations in Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI).
49 seizures plus, and Dravet syndrome or severe myoclonic epilepsy in infancy.
50 ion of the human Na(V) SCN1A, such as severe myoclonic epilepsy in infants or intractable childhood e
51                                     Juvenile myoclonic epilepsy is a common type of idiopathic genera
52                                     Juvenile myoclonic epilepsy is a heritable idiopathic generalized
53        A form of autosomal dominant juvenile myoclonic epilepsy is caused by a nonconservative missen
54                                     Juvenile myoclonic epilepsy is the most common genetic generalize
55                                     Juvenile myoclonic epilepsy is the most common idiopathic general
56                                     Juvenile myoclonic epilepsy is the most frequent idiopathic gener
57 Lafora disease (LD), a fatal genetic form of myoclonic epilepsy, is characterized by abnormally high
58 ephalography (MEG) from people with juvenile myoclonic epilepsy (JME) and healthy controls.
59             The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phen
60                         Adults with juvenile myoclonic epilepsy (JME) have subtle brain structural ab
61                                     Juvenile myoclonic epilepsy (JME) is a common form of generalized
62                                     Juvenile myoclonic epilepsy (JME) is a common idiopathic generali
63                                     Juvenile myoclonic epilepsy (JME) is a distinctive and common var
64                                     Juvenile myoclonic epilepsy (JME) is associated with cortical thi
65 er, 40% of individual patients with juvenile myoclonic epilepsy (JME), a syndrome of IGE in adolescen
66   The IGEs that we studied included juvenile myoclonic epilepsy (JME), epilepsy with only generalized
67                   The IGEs included juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE
68 i were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to generalize
69 g childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), ge
70 ssive myoclonic epilepsy (PME) from juvenile myoclonic epilepsy (JME).
71 rm of inherited epilepsy in humans, juvenile myoclonic epilepsy (JME).
72  markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in a later
73 was confirmed only in patients with juvenile myoclonic epilepsy (JME; IPTW-adjusted HR, 0.47; 95% CI,
74 the fatal childhood dementia and progressive myoclonic epilepsy known as Lafora disease (LD).
75 t least one genetic disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphoryla
76 h presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuro
77 ts with two forms of IGE, including juvenile myoclonic epilepsy (n = 93) and absence epilepsy (n = 25
78 ft mutation in SCN1A, consistent with severe myoclonic epilepsy of infancy (Dravet syndrome).
79 of-function mutations in NaV1.1 cause severe myoclonic epilepsy of infancy (SMEI or Dravet's Syndrome
80 febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditi
81 a(V)1.1, are the most common cause of severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome.
82 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).
83 ilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI).
84 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI).
85 itis pigmentosa, cystic fibrosis, and severe myoclonic epilepsy of infancy and showed that the majori
86  may contribute to sleep disorders in severe myoclonic epilepsy of infancy patients.
87          Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe
88 d in patients with Dravet's syndrome (severe myoclonic epilepsy of infancy), making this the most com
89 le-cell pertussis vaccine were due to severe myoclonic epilepsy of infancy, a severe seizure disorder
90  mutations in Na(V)1.1 channels cause severe myoclonic epilepsy of infancy, an intractable childhood
91 ith febrile seizures plus (GEFS+),(7) severe myoclonic epilepsy of infancy, and familial hemiplegic m
92 ith febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy.
93  channels is the underlying cause for severe myoclonic epilepsy of infancy; the circadian deficits th
94 he exclusion of the locus for familial adult myoclonic epilepsy on chromosome 8q23.3-q24 from linkage
95 nd in eight out of 20 patients with juvenile myoclonic epilepsy, one out of 10 patients with childhoo
96  whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinical electro
97 y been reported in patients with progressive myoclonic epilepsy, our study indicates that the clinica
98  along the hippocampal long axis in juvenile myoclonic epilepsy patients with and without malrotation
99 MRI-negative epilepsies, and (3) progressive myoclonic epilepsy (PME) from juvenile myoclonic epileps
100 characterized by infantile-onset progressive myoclonic epilepsy (PME), vision loss, cognitive and mot
101         Lafora disease (LD) is a progressive myoclonic epilepsy resulting in severe neurodegeneration
102                       Patients with juvenile myoclonic epilepsy showed increased functional connectiv
103 an 40) of 11 of those patients with juvenile myoclonic epilepsy (six female; age range 22-54 years, m
104 and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare lysosomal st
105 ited neurodegenerative disorder, progressive myoclonic epilepsy type 1 (EPM1).
106               The patient was suffering from myoclonic epilepsy with hypotonia and severe motor disab
107 halographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in yo
108 e A8344G mutation associated with the MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome exhi
109 tion G611A), which is associated with MERRF (myoclonic epilepsy with ragged red fibers).
110 ound in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and chronic p
111 ted in vitro into mitochondria isolated from myoclonic epilepsy with ragged-red fiber cells if provid
112 d stroke-like episodes (A3243G MELAS) or the myoclonic epilepsy with ragged-red fibres (A8344G MERRF)
113 n ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disa

 
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